ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3789T>C (p.Ser1263=) (rs876659185)

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Total submissions: 4
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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) RCV000495222 SCV000578928 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 RCV000220322 SCV000275346 likely benign Hereditary cancer-predisposing syndrome 2015-04-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590278 SCV000694718 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Color RCV000220322 SCV000904838 likely benign Hereditary cancer-predisposing syndrome 2018-04-11 criteria provided, single submitter clinical testing

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