chr17-43104882-T-C

Variant names:

• chr17-43104882-T-C
• rs864622444
• NM_007294.4:c.287A>G

Variant summary

Our verdict is Pathogenic. The variant received 15 ACMG points: 15P and 0B. PM1 PM2 PM5 PP3 PP5_Very_Strong

The NM_007294.4(BRCA1):​c.287A>G​(p.Asp96Gly) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D96Y) has been classified as Uncertain significance.

• Frequency: Genomes: not found (cov: 32)
• Consequence: BRCA1 NM_007294.4 missense
• Clinical Significance: Pathogenic/Likely pathogenic criteria provided, multiple submitters, no conflicts P:6
• Conservation: PhyloP100: 4.69
• Publications: 13 publications found

Genes affected

BRCA1 (HGNC:1100): (BRCA1 DNA repair associated) This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]

BRCA1 Gene-Disease associations (from GenCC):

• breast-ovarian cancer, familial, susceptibility to, 1

  Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Ambry Genetics, ClinGen, Labcorp Genetics (formerly Invitae), Genomics England PanelApp
• Fanconi anemia, complementation group S

  Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE, LIMITED Submitted by: G2P, Labcorp Genetics (formerly Invitae), ClinGen, Ambry Genetics
• pancreatic cancer, susceptibility to, 4

  Inheritance: AD Classification: MODERATE Submitted by: Genomics England PanelApp
• hereditary breast ovarian cancer syndrome

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• Fanconi anemia

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Pathogenic. The variant received 15 ACMG points.

• PM1: In a hotspot region, there are 3 aminoacids with missense pathogenic changes in the window of +-8 aminoacids around while only 13 benign, 72 uncertain in NM_007294.4
• PM2: Very rare variant in population databases, with high coverage
• PM5: Other missense variant is known to change same aminoacid residue: Variant chr17-43104883-C-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 462596.
• PP3: MetaRNN computational evidence supports a deleterious effect, 0.815
• PP5: Variant 17-43104882-T-C is Pathogenic according to our data. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43104882-T-C is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 220258.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRCA1	NM_007294.4	c.287A>G	p.Asp96Gly	missense_variant	Exon 5 of 23	ENST00000357654.9	NP_009225.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA1	ENST00000357654.9	c.287A>G	p.Asp96Gly	missense_variant	Exon 5 of 23	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 0

ClinVar

Significance: Pathogenic/Likely pathogenic

Submissions summary: Pathogenic:6

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

Breast-ovarian cancer, familial, susceptibility to, 1 Pathogenic:2

Jun 12, 2023

Myriad Genetics, Inc.

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 30209399, 35659930]. This variant is expected to disrupt protein structure [Myriad internal data]. -

Oct 22, 2024

Molecular Pathology, Peter Maccallum Cancer Centre

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Hereditary cancer-predisposing syndrome Pathogenic:2

Jun 10, 2024

Color Diagnostics, LLC DBA Color Health

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This missense variant replaces aspartic acid with glycine at codon 96 in the RING domain of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function. Functional studies have reported that this variant impacts BRCA1 function in a ubiquitin E3 ligase assay, two BARD1-binding assays and a haploid cell proliferation assay (PMID: 25823446, 30209399, 35659930). This variant has been reported in at least two individuals affected with ovarian cancer (PMID: 37664050, 38386807) and have been detected in additional individuals affected with breast or ovarian cancer (PMID: 37656691; ClinVar variation ID: SCV002749569.2, SCV000260660.8; External laboratory communication). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. -

Oct 13, 2021

Ambry Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The p.D96G variant (also known as c.287A>G), located in coding exon 4 of the BRCA1 gene, results from an A to G substitution at nucleotide position 287. The aspartic acid at codon 96 is replaced by glycine, an amino acid with similar properties. One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). Additional alterations at the same codon have also been found to cause loss of function and have been detected in individuals with breast and/or ovarian cancer (Findlay GM et al. Nature, 2018 10;562:217-222; Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. -

Familial cancer of breast;C2676676:Breast-ovarian cancer, familial, susceptibility to, 1;C3280442:Pancreatic cancer, susceptibility to, 4;C4554406:Fanconi anemia, complementation group S Pathogenic:1

Apr 20, 2022

Fulgent Genetics, Fulgent Genetics

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Hereditary breast ovarian cancer syndrome Pathogenic:1

Aug 14, 2023

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

ClinVar contains an entry for this variant (Variation ID: 220258). This missense change has been observed in individual(s) with breast and/or ovarian cancer (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 96 of the BRCA1 protein (p.Asp96Gly). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 30209399). -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Pathogenic	0.92
BayesDel_addAF	Pathogenic	0.51	D
BayesDel_noAF	Pathogenic	0.49
CADD	Pathogenic	26
DANN	Uncertain	1.0
DEOGEN2	Benign	0.34	.;T;.;.;.;.;.;T;.;T;.;T;T;.;T;T;.;.
Eigen	Uncertain	0.35
Eigen_PC	Uncertain	0.40
FATHMM_MKL	Pathogenic	0.99	D
LIST_S2	Uncertain	0.97	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D
M_CAP	Pathogenic	0.50	D
MetaRNN	Pathogenic	0.82	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D
MetaSVM	Benign	-0.43	T
MutationAssessor	Uncertain	2.5	M;M;M;M;.;M;.;.;.;.;.;.;.;.;.;.;.;.
PhyloP100		4.7
PrimateAI	Uncertain	0.63	T
PROVEAN	Benign	-1.8	N;N;N;N;N;N;N;D;N;D;N;.;N;N;N;D;D;.
REVEL	Pathogenic	0.81
Sift	Pathogenic	0.0	D;D;D;D;D;D;D;D;D;D;D;.;D;D;D;D;D;.
Sift4G	Benign	0.28	T;T;T;T;D;T;.;.;D;.;T;.;T;.;T;.;.;.
Polyphen		0.98, 1.0, 1.0	.;D;.;.;.;D;.;.;.;.;D;.;.;.;.;.;.;.
Vest4		0.89
MutPred		0.54		Loss of solvent accessibility (P = 0.0674);Loss of solvent accessibility (P = 0.0674);Loss of solvent accessibility (P = 0.0674);Loss of solvent accessibility (P = 0.0674);.;Loss of solvent accessibility (P = 0.0674);.;Loss of solvent accessibility (P = 0.0674);.;.;Loss of solvent accessibility (P = 0.0674);Loss of solvent accessibility (P = 0.0674);Loss of solvent accessibility (P = 0.0674);.;Loss of solvent accessibility (P = 0.0674);Loss of solvent accessibility (P = 0.0674);.;.;
MVP		0.95
MPC		0.48
ClinPred		0.98	D
GERP RS		5.3
PromoterAI		0.053	Neutral
Varity_R		0.77
gMVP		0.68

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs864622444; hg19: chr17-41256899;