| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | 31131967 | 2019 |
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|
T | 0.700 | CausalMutation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. | 25452441 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia. | 24797986 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Functional characterization of BRCA1 gene variants by mini-gene splicing assay. | 24667779 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. | 21769658 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | 21990134 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | 17924331 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | BRCA1 and BRCA2 mutations in a study of African American breast cancer patients. | 15533909 | 2004 |
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|
G | 0.700 | CausalMutation | CLINVAR |