ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2006T>C (p.Met669Thr) (rs80356895)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130064 SCV000184891 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Counsyl RCV000031023 SCV000487917 uncertain significance Breast-ovarian cancer, familial 1 2015-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000420884 SCV000518172 likely benign not specified 2018-01-03 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 RCV000420884 SCV000591363 uncertain significance not specified 2015-06-25 criteria provided, single submitter clinical testing
Color RCV000130064 SCV000911034 likely benign Hereditary cancer-predisposing syndrome 2016-09-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031023 SCV000053616 benign Breast-ovarian cancer, familial 1 2012-02-17 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031023 SCV000144273 uncertain significance Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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