ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10253_10256del (p.Ile3418fs) (rs80359259)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132549 SCV000187647 likely benign Hereditary cancer-predisposing syndrome 2017-09-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification
Invitae RCV000468883 SCV000560487 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000479859 SCV000569071 likely benign not specified 2017-08-23 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.
Color RCV000132549 SCV000906970 likely benign Hereditary cancer-predisposing syndrome 2018-05-11 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077653 SCV000109456 likely benign Breast-ovarian cancer, familial 2 2009-03-13 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077653 SCV000145774 uncertain significance Breast-ovarian cancer, familial 2 2002-06-20 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000468883 SCV000586997 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-04-14 no assertion criteria provided clinical testing

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