ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.183A>G (p.Leu61=) (rs776638534)

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Total submissions: 7
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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) RCV000411530 SCV000579146 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 RCV000163856 SCV000214442 likely benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
Counsyl RCV000411530 SCV000488915 likely benign Breast-ovarian cancer, familial 2 2016-07-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587647 SCV000694576 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Color RCV000163856 SCV000903813 likely benign Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing
Invitae RCV001089065 SCV001034403 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000890643 SCV001133697 likely benign not provided 2019-03-11 criteria provided, single submitter clinical testing

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