ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8061T>C (p.Val2687=) (rs776992904)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164091 SCV000214702 likely benign Hereditary cancer-predisposing syndrome 2014-08-21 criteria provided, single submitter clinical testing
Color RCV000164091 SCV000689094 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495042 SCV000578856 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/).
Integrated Genetics/Laboratory Corporation of America RCV000589034 SCV000695124 uncertain significance not provided 2016-03-08 criteria provided, single submitter clinical testing
Invitae RCV000230286 SCV000283331 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-15 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000589034 SCV000778715 likely benign not provided 2018-01-02 no assertion criteria provided clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506599 SCV000600781 likely benign not specified 2016-12-15 criteria provided, single submitter clinical testing

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