ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4261C>T (p.His1421Tyr) (rs80357013)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131530 SCV000186524 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA1) RCV000112306 SCV000145044 uncertain significance Breast-ovarian cancer, familial 1 1997-02-15 no assertion criteria provided clinical testing
Color RCV000131530 SCV000903403 likely benign Hereditary cancer-predisposing syndrome 2017-06-20 criteria provided, single submitter clinical testing
Counsyl RCV000112306 SCV000489251 uncertain significance Breast-ovarian cancer, familial 1 2016-09-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000679697 SCV000225646 uncertain significance not provided 2015-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000174360 SCV000729079 likely benign not specified 2017-10-30 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.
Invitae RCV000048506 SCV000076519 likely benign Hereditary breast and ovarian cancer syndrome 2017-06-24 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679697 SCV000806948 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000174360 SCV000296414 uncertain significance not specified 2017-01-13 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112306 SCV000297610 likely benign Breast-ovarian cancer, familial 1 2010-02-03 no assertion criteria provided clinical testing

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