chr17-43051062-C-G

Variant names:

• chr17-43051062-C-G
• rs80358041
• NM_007294.4:c.5332+1G>C

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.5332+1G>C variant causes a splice donor, intron change. The variant allele was found at a frequency of 0.00000137 in 1,461,614 control chromosomes in the GnomAD database, with no homozygous occurrence. 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)
  • Exomes 𝑓: 0.0000014 (0 hom.)
• Consequence: BRCA1 NM_007294.4 splice_donor, intron
• Scores: Splicing: ADA: 1.000
• Clinical Significance: Pathogenic criteria provided, multiple submitters, no conflicts P:7
• Conservation: PhyloP100: 4.23
• Publications: 25 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, No cryptic splice site detected. Exon removal results in frameshift change.
• PM2: Very rare variant in population databases, with high coverage
• PP5: Variant 17-43051062-C-G is Pathogenic according to our data. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr17-43051062-C-G is described in CliVar as Pathogenic. Clinvar id is 55528.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.5332+1G>C		splice_donor_variant, intron_variant	Intron 20 of 22	ENST00000357654.9	NP_009225.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA1	ENST00000357654.9	c.5332+1G>C		splice_donor_variant, intron_variant	Intron 20 of 22	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome AF: 0.00000137 AC: 2 AN: 1461614 Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1 AN XY: 727134

African (AFR) AF: 0.00 AC: 0 AN: 33474

American (AMR) AF: 0.00 AC: 0 AN: 44724

Ashkenazi Jewish (ASJ) AF: 0.0000383 AC: 1 AN: 26136

East Asian (EAS) AF: 0.00 AC: 0 AN: 39698

South Asian (SAS) AF: 0.00 AC: 0 AN: 86254

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 53414

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5758

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 1111768

Other (OTH) AF: 0.0000166 AC: 1 AN: 60388

GnomAD4 genome Cov.: 31

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:7

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

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

Nov 15, 2017

Counsyl

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. -

Nov 16, 2023

Baylor Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

not provided Pathogenic:2

Nov 03, 2015

GeneDx

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is denoted BRCA1 c.5332+1G>C or IVS20+1G>C and consists of a G>C nucleotide substitution at the +1 position of intron 20 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 5451+1G>C. This variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has been reported as a recurrent pathogenic variant in the Chinese population (Pan 2011). Based on the current evidence, we consider this variant to be pathogenic. -

Jul 24, 2020

Revvity Omics, Revvity

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Hereditary cancer-predisposing syndrome Pathogenic:2

Oct 18, 2021

Color Diagnostics, LLC DBA Color Health

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant causes a G to C nucleotide substitution at the +1 position of intron 20 of the BRCA1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. A different mutation at this position, c.5332+1G>A, has been shown to cause the out-of-frame skipping of exon 20, resulting in a premature truncation and expected absent or non-functional protein product (PMID: 23451180, 24667779). A functional study has reported that this variant impacts BRCA1 function in a haploid cell proliferation assay (PMID: 30209399). This variant has been reported in at least eight individuals affected with breast or ovarian cancer and has been described as a recurrent mutation in the Chinese population (PMID: 16835750, 20960228, 21901790, 30702160; Color internal data) This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. -

Apr 04, 2024

Ambry Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The c.5332+1G>C intronic pathogenic mutation results from a G to C substitution one nucleotide after coding exon 19 of the BRCA1 gene. 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. This variant was observed in cohorts of patients with breast cancer (Deng M et al. Int J Cancer, 2019 Sep;145:1517-1528) and ovarian cancer (Carter NJ et al. Gynecol Oncol, 2018 Dec;151:481-488). Additionally, 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). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. -

Hereditary breast ovarian cancer syndrome Pathogenic:1

Feb 19, 2022

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is also known as 5451+1G>C. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the c.5332+1G nucleotide in the BRCA1 gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 11084537, 19629752, 23451180, 24667779). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 55528). Disruption of this splice site has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16324400, 16456781, 20960228). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 20 of the BRCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_addAF	Pathogenic	0.43	D
BayesDel_noAF	Pathogenic	0.38
CADD	Pathogenic	32
DANN	Uncertain	0.99
Eigen	Pathogenic	1.1
Eigen_PC	Pathogenic	0.93
FATHMM_MKL	Uncertain	0.96	D
PhyloP100		4.2
GERP RS		5.2
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		2.9
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)		0.99		Details are displayed if max score is > 0.2
DS_DL_spliceai		0.99		Position offset: 1

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

Other links and lift over

dbSNP: rs80358041; hg19: chr17-41203079;