ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10023C>T (p.Asp3341=) (rs113507014)

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Total submissions: 5
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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) RCV000495017 SCV000578919 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 RCV000164212 SCV000214833 likely benign Hereditary cancer-predisposing syndrome 2015-06-28 criteria provided, single submitter clinical testing
Invitae RCV000759569 SCV000560417 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759569 SCV000888965 likely benign not provided 2019-03-27 criteria provided, single submitter clinical testing
Color RCV000164212 SCV000906830 likely benign Hereditary cancer-predisposing syndrome 2017-12-18 criteria provided, single submitter clinical testing

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