ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) (rs80357243)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677817 SCV000803977 likely pathogenic Neoplasm of the breast 2017-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129696 SCV000184497 likely pathogenic Hereditary cancer-predisposing syndrome 2017-08-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),Structural Evidence,Moderate segregation with disease (at least 3 informative meioses) for rare diseases.,Other data supporting pathogenic classification
Breast Cancer Information Core (BIC) (BRCA1) RCV000112504 SCV000145326 uncertain significance Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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