ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4993G>A (p.Val1665Met) (rs80357169)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129500 SCV000184272 likely benign Hereditary cancer-predisposing syndrome 2017-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign),Structural Evidence
Breast Cancer Information Core (BIC) (BRCA1) RCV000083214 SCV000145256 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000129500 SCV000909002 likely benign Hereditary cancer-predisposing syndrome 2017-12-18 criteria provided, single submitter clinical testing
Counsyl RCV000083214 SCV000785227 uncertain significance Breast-ovarian cancer, familial 1 2017-06-21 criteria provided, single submitter clinical testing
GeneDx RCV000420335 SCV000516131 likely benign not specified 2017-12-21 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.
GeneKor MSA RCV000129500 SCV000821927 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000048732 SCV000076745 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000420335 SCV000605898 uncertain significance not specified 2017-05-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083214 SCV000115288 likely benign Breast-ovarian cancer, familial 1 2012-03-26 no assertion criteria provided clinical testing

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