ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8997G>A (p.Leu2999=) (rs80359804)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165813 SCV000216560 likely benign Hereditary cancer-predisposing syndrome 2014-09-03 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114028 SCV000147508 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000165813 SCV000689166 likely benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501626 SCV000592245 likely benign not specified 2016-08-18 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000114028 SCV000579174 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Invitae RCV000045683 SCV000073696 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-10 criteria provided, single submitter clinical testing

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