ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9242T>C (p.Val3081Ala) (rs80359189)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129976 SCV000184800 likely benign Hereditary cancer-predisposing syndrome 2017-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000031805 SCV000147576 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Color RCV000129976 SCV000684041 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000045755 SCV000210682 likely benign not specified 2017-08-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588417 SCV000695221 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing
Invitae RCV000203623 SCV000073768 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing
Mendelics RCV000203623 SCV000838899 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031805 SCV000054413 likely benign Breast-ovarian cancer, familial 2 2012-03-27 no assertion criteria provided clinical testing

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