ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.61A>G (p.Ile21Val) (rs80357406)

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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 RCV000131702 SCV000186739 likely benign Hereditary cancer-predisposing syndrome 2016-06-29 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507259 SCV000600431 likely benign not provided 2019-05-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV000131702 SCV001356626 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-18 criteria provided, single submitter clinical testing
Invitae RCV001417954 SCV001620168 likely benign Hereditary breast and ovarian cancer syndrome 2020-03-08 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111663 SCV000144155 uncertain significance Breast-ovarian cancer, familial 1 1999-03-24 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000111663 SCV001243730 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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