ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7569G>A (p.Leu2523=) (rs786201620)

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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 RCV000163984 SCV000214584 likely benign Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing
Color RCV000163984 SCV000683890 likely benign Hereditary cancer-predisposing syndrome 2017-04-27 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495381 SCV000578645 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 RCV000637912 SCV000759392 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759661 SCV000889133 likely benign not provided 2017-12-02 criteria provided, single submitter clinical testing

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