ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2496G>A (p.Glu832=) (rs786201479)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495032 SCV000579131 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/).
Ambry Genetics RCV000163722 SCV000214296 likely benign Hereditary cancer-predisposing syndrome 2013-12-05 criteria provided, single submitter clinical testing
Invitae RCV000540428 SCV000635226 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-21 criteria provided, single submitter clinical testing

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