ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9738C>A (p.Ala3246=) (rs80359811)

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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) RCV000495521 SCV000578900 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 RCV000163409 SCV000213952 likely benign Hereditary cancer-predisposing syndrome 2017-11-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000556113 SCV000635758 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000163409 SCV000689225 likely benign Hereditary cancer-predisposing syndrome 2017-08-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586245 SCV000695268 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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