chr17-43051062-C-G

Variant summary

Our verdict is Pathogenic. The variant received 18 ACMG points: 18P and 0B. PVS1PM2PP5_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

4
2
1
Splicing: ADA: 1.000
2

Clinical Significance

Pathogenic criteria provided, multiple submitters, no conflicts P:7

Conservation

PhyloP100: 4.23

Publications

25 publications found
Variant links:
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

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ACMG classification

Classification was made for transcript

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
BRCA1NM_007294.4 linkc.5332+1G>C splice_donor_variant, intron_variant Intron 20 of 22 ENST00000357654.9 NP_009225.1 P38398-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
BRCA1ENST00000357654.9 linkc.5332+1G>C splice_donor_variant, intron_variant Intron 20 of 22 1 NM_007294.4 ENSP00000350283.3 P38398-1

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
show subpopulations
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
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.500
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome
Cov.:
31

ClinVar

Significance: Pathogenic
Submissions summary: Pathogenic:7
Revision: criteria provided, multiple submitters, no conflicts
LINK: link

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

Publications

Other links and lift over

dbSNP: rs80358041; hg19: chr17-41203079; API