ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.317-975G>A

gnomAD frequency: 0.03697  dbSNP: rs11571605
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Total submissions: 1
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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) RCV000191586 SCV000244959 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1049 (Asian), 0.01423 (African), 0.03694 (European), derived from 1000 genomes (2012-04-30).

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