ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6455C>A (p.Ser2152Tyr) (rs80358881)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131213 SCV000186164 likely benign Hereditary cancer-predisposing syndrome 2017-07-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000083128 SCV000146861 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131213 SCV000683783 likely benign Hereditary cancer-predisposing syndrome 2016-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000044961 SCV000210389 likely benign not specified 2017-07-13 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.
Integrated Genetics/Laboratory Corporation of America RCV000589575 SCV000694975 benign not provided 2016-10-03 criteria provided, single submitter clinical testing
Invitae RCV000167812 SCV000072974 benign Hereditary breast and ovarian cancer syndrome 2017-11-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589575 SCV000805745 likely benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000044961 SCV000600703 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083128 SCV000115202 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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