ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2286A>T (p.Arg762Ser) (rs273898682)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047783 SCV000075796 likely benign not provided 2019-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132175 SCV000187254 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240751 SCV000265885 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Counsyl RCV000111817 SCV000489265 uncertain significance Breast-ovarian cancer, familial 1 2016-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000485167 SCV000566093 likely benign not specified 2018-01-19 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000485167 SCV000591376 uncertain significance not specified 2015-02-06 criteria provided, single submitter clinical testing
Color RCV000132175 SCV000903159 likely benign Hereditary cancer-predisposing syndrome 2016-10-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000047783 SCV001133522 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Mendelics RCV000111817 SCV001140578 uncertain significance Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111817 SCV000144367 uncertain significance Breast-ovarian cancer, familial 1 2010-09-18 no assertion criteria provided clinical testing

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