ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8086T>C (p.Leu2696=) (rs767912817)

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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) RCV000495728 SCV000579061 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 RCV000165895 SCV000216649 likely benign Hereditary cancer-predisposing syndrome 2014-09-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508446 SCV000600782 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000538229 SCV000635635 likely benign Hereditary breast and ovarian cancer syndrome 2017-07-26 criteria provided, single submitter clinical testing
Color RCV000165895 SCV000683939 likely benign Hereditary cancer-predisposing syndrome 2016-10-11 criteria provided, single submitter clinical testing

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