ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1250A>G (p.Asn417Ser) (rs80357113)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047392 SCV000075405 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000166228 SCV000217007 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000426173 SCV000531732 likely benign not specified 2016-09-09 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.
Counsyl RCV000083168 SCV000786010 uncertain significance Breast-ovarian cancer, familial 1 2018-02-06 criteria provided, single submitter clinical testing
Color RCV000166228 SCV000912051 likely benign Hereditary cancer-predisposing syndrome 2018-05-08 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083168 SCV000115242 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083168 SCV000144038 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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