ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.661G>T (p.Ala221Ser) (rs80357088)

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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 RCV000165438 SCV000216167 likely benign Hereditary cancer-predisposing syndrome 2018-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA1) RCV000031271 SCV000145647 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000165438 SCV000683341 likely benign Hereditary cancer-predisposing syndrome 2015-04-08 criteria provided, single submitter clinical testing
Counsyl RCV000031271 SCV000489036 uncertain significance Breast-ovarian cancer, familial 1 2016-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000200971 SCV000210081 likely benign not specified 2017-08-29 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 RCV000200971 SCV000600432 uncertain significance not specified 2017-07-20 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031271 SCV000053876 likely benign Breast-ovarian cancer, familial 1 2013-01-08 no assertion criteria provided clinical testing

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