chr17-43051119-T-C

Variant names:

• chr17-43051119-T-C
• rs397509253
• NM_007294.4:c.5278-2A>G

Variant summary

Our verdict is Pathogenic. The variant received 18 ACMG points: 18P and 0B. PVS1 PM2 PP5_Very_Strong

The NM_007294.4(BRCA1):​c.5278-2A>G variant causes a splice acceptor, intron change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Pathogenic (★★).

• Frequency: Genomes: not found (cov: 31)
• Consequence: BRCA1 NM_007294.4 splice_acceptor, intron
• Scores: Splicing: ADA: 1.000
• Clinical Significance: Pathogenic criteria provided, multiple submitters, no conflicts P:4
• Conservation: PhyloP100: 4.29
• Publications: 4 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 18 ACMG points.

• PVS1: Splicing +-2 bp (donor or acceptor) variant, LoF is a know mechanism of disease, Cryptic splice site detected, with MaxEntScore 6.9, offset of 8, new splice context is: ctcttcttccggatcttcAGggg. Cryptic site results in frameshift change. If cryptic site found is not functional and variant results in exon loss, it results in frameshift change.
• PM2: Very rare variant in population databases, with high coverage
• PP5: Variant 17-43051119-T-C is Pathogenic according to our data. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051119-T-C is described in CliVar as Pathogenic. Clinvar id is 267593.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.5278-2A>G		splice_acceptor_variant, intron_variant	Intron 19 of 22	ENST00000357654.9	NP_009225.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA1	ENST00000357654.9	c.5278-2A>G		splice_acceptor_variant, intron_variant	Intron 19 of 22	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 31

Alfa AF: 0.00 Hom.: 0

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:4

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

Hereditary breast ovarian cancer syndrome Pathogenic:2

Feb 23, 2024

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This sequence change affects an acceptor splice site in intron 19 of the BRCA1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 267593). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of this splice site affects BRCA1 function (PMID: 30209399). Studies have shown that disruption of this splice site results in skipping of exon 20 and skipping of 8 bp at the 5'-end of exon 20 and introduces a premature termination codon (PMID: 23239986, 23451180; Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. -

Jan 31, 2014

Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: research

- -

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

Oct 02, 2015

Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Hereditary cancer-predisposing syndrome Pathogenic:1

Dec 08, 2023

Ambry Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The c.5278-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 19 in the BRCA1 gene. This nucleotide position is highly conserved in available vertebrate species. 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 Oct;562:217-222). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_addAF	Pathogenic	0.33	D
BayesDel_noAF	Pathogenic	0.23
CADD	Pathogenic	35
DANN	Uncertain	0.98
Eigen	Pathogenic	0.96
Eigen_PC	Pathogenic	0.80
FATHMM_MKL	Uncertain	0.84	D
PhyloP100		4.3
GERP RS		5.1
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1
Mutation Taster		=0/100	disease causing (ClinVar)

Splicing

Name	Calibrated prediction	Score	Prediction
dbscSNV1_ADA	Pathogenic	1.0
dbscSNV1_RF	Pathogenic	0.93
SpliceAI score (max)		0.96		Details are displayed if max score is > 0.2
DS_AG_spliceai		0.78		Position offset: -10
DS_AL_spliceai		0.96		Position offset: -2

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

Other links and lift over

dbSNP: rs397509253; hg19: chr17-41203136;