ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1392G>A (p.Val464=) (rs1060504613)

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Total submissions: 2
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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) RCV000495151 SCV000579180 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 RCV000461397 SCV000560401 likely benign Hereditary breast and ovarian cancer syndrome 2016-08-05 criteria provided, single submitter clinical testing

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