ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2211A>C (p.Ala737=) (rs587780647)

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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) RCV000495179 SCV000578639 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 RCV000575216 SCV000673086 likely benign Hereditary cancer-predisposing syndrome 2016-03-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000122902 SCV000166160 likely benign Hereditary breast and ovarian cancer syndrome 2014-11-06 no assertion criteria provided clinical testing

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