ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly) (rs80357501)

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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 RCV000164694 SCV000215361 benign Hereditary cancer-predisposing syndrome 2014-06-02 criteria provided, single submitter clinical testing In silico models in agreement (benign);Intact protein function observed in appropriate functional assay(s);Other strong data supporting benign classification
GeneDx RCV000484207 SCV000564747 likely benign not specified 2017-07-06 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.
Color Health, Inc RCV000164694 SCV000903165 benign Hereditary cancer-predisposing syndrome 2017-05-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311125 SCV001501174 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Invitae RCV001487028 SCV001691511 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083218 SCV000115292 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083218 SCV000145371 uncertain significance Breast-ovarian cancer, familial 1 2002-06-20 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000083218 SCV001237813 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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