ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3993T>C (p.Ser1331=) (rs754883505)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571173 SCV000665202 likely benign Hereditary cancer-predisposing syndrome 2015-11-06 criteria provided, single submitter clinical testing
Color RCV000571173 SCV000688843 likely benign Hereditary cancer-predisposing syndrome 2017-09-22 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495708 SCV000578772 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 RCV000637906 SCV000759386 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759608 SCV000889035 likely benign not provided 2017-09-09 criteria provided, single submitter clinical testing

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