ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9649-214_9649-211del

dbSNP: rs573737764
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Total submissions: 2
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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) RCV000255504 SCV000321228 benign Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-28 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0136 (African), derived from 1000 genomes (2013-05-02).
GeneDx RCV001571739 SCV001796262 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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