ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2083G>A (p.Asp695Asn) (rs28897681)

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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 RCV000130220 SCV000185059 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000111765 SCV000487950 uncertain significance Breast-ovarian cancer, familial 1 2015-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000440541 SCV000520968 likely benign not specified 2017-09-18 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 RCV000130220 SCV000906721 benign Hereditary cancer-predisposing syndrome 2016-11-21 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111765 SCV000144295 uncertain significance Breast-ovarian cancer, familial 1 1999-04-06 no assertion criteria provided clinical testing
3DMed Clinical Laboratory Inc RCV000677807 SCV000803966 uncertain significance Neoplasm of the breast 2017-09-05 no assertion criteria provided clinical testing

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