ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4750G>T (p.Ala1584Ser) (rs80357070)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165039 SCV000215738 likely benign Hereditary cancer-predisposing syndrome 2016-08-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA1) RCV000083211 SCV000145173 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Color RCV000165039 SCV000683210 likely benign Hereditary cancer-predisposing syndrome 2016-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000212186 SCV000209976 likely benign not specified 2018-01-15 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.
Invitae RCV000048651 SCV000076664 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083211 SCV000115285 likely benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing

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