ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3835G>A (p.Ala1279Thr) (rs80357036)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000679693 SCV000076361 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129501 SCV000184273 likely benign Hereditary cancer-predisposing syndrome 2016-09-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign)
GeneDx RCV000435150 SCV000526552 likely benign not specified 2016-10-25 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000435150 SCV000605854 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679693 SCV000806941 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing
Color RCV000129501 SCV000902917 benign Hereditary cancer-predisposing syndrome 2017-04-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083198 SCV000115272 benign Breast-ovarian cancer, familial 1 2012-03-26 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083198 SCV000144890 uncertain significance Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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