ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5198A>G (p.Asp1733Gly) (rs80357270)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000590656 SCV000076867 likely benign not provided 2019-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129798 SCV000184607 likely benign Hereditary cancer-predisposing syndrome 2017-06-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s)
GeneDx RCV000417372 SCV000209987 likely benign not specified 2018-02-14 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 RCV000590656 SCV000699212 likely benign not provided 2016-01-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590656 SCV000888942 likely benign not provided 2017-12-08 criteria provided, single submitter clinical testing
Color RCV000129798 SCV000903063 benign Hereditary cancer-predisposing syndrome 2015-11-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112560 SCV000145389 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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