ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9155G>A (p.Arg3052Gln) (rs80359171)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131685 SCV000186721 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000031800 SCV000147554 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768640 SCV000219419 uncertain significance Breast and/or ovarian cancer 2016-04-24 criteria provided, single submitter clinical testing
Color RCV000131685 SCV000689179 likely benign Hereditary cancer-predisposing syndrome 2016-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000441558 SCV000512395 likely benign not specified 2017-07-06 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 RCV000045733 SCV000073746 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000441558 SCV000600846 uncertain significance not specified 2017-03-31 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031800 SCV000054408 likely benign Breast-ovarian cancer, familial 2 2011-11-09 no assertion criteria provided clinical testing

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