ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7096C>G (p.Leu2366Val) (rs80358941)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225749 SCV000073155 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000045142 SCV000210644 likely benign not specified 2017-07-03 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.
Ambry Genetics RCV000164923 SCV000215611 likely benign Hereditary cancer-predisposing syndrome 2018-10-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Counsyl RCV000031665 SCV000488188 uncertain significance Breast-ovarian cancer, familial 2 2016-01-19 criteria provided, single submitter clinical testing
Color RCV000164923 SCV000689030 likely benign Hereditary cancer-predisposing syndrome 2017-05-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679185 SCV000805757 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031665 SCV000054272 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031665 SCV000147021 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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