ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) (rs80356959)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130013 SCV000184838 likely pathogenic Hereditary cancer-predisposing syndrome 2017-09-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),Well-characterized mutation at same position,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Structural Evidence
Breast Cancer Information Core (BIC) (BRCA1) RCV000112688 SCV000145557 uncertain significance Breast-ovarian cancer, familial 1 2002-06-20 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000499847 SCV000591637 likely pathogenic Hereditary breast and ovarian cancer syndrome 2016-07-15 criteria provided, single submitter clinical testing

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