ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4206T>C (p.Asn1402=) (rs878853580)

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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) RCV000495581 SCV000578746 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 RCV000233837 SCV000283233 likely benign Hereditary breast and ovarian cancer syndrome 2016-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565875 SCV000664809 likely benign Hereditary cancer-predisposing syndrome 2016-07-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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