ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8662C>T (p.Arg2888Cys) (rs80359123)

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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 RCV000163014 SCV000213502 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077640 SCV000147430 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000163014 SCV000911010 benign Hereditary cancer-predisposing syndrome 2015-09-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077640 SCV000744544 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077640 SCV000244487 benign Breast-ovarian cancer, familial 2 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000248
GeneDx RCV000441231 SCV000517198 likely benign not specified 2017-01-25 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 RCV000535357 SCV000635679 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077640 SCV000109443 likely benign Breast-ovarian cancer, familial 2 2009-10-05 no assertion criteria provided clinical testing

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