ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9426T>C (p.Asp3142=) (rs786201946)

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Total submissions: 3
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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) RCV000495440 SCV000579192 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 RCV000164492 SCV000215141 likely benign Hereditary cancer-predisposing syndrome 2015-05-15 criteria provided, single submitter clinical testing
Invitae RCV000456167 SCV000560496 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-05 criteria provided, single submitter clinical testing

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