ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.631+541T>C

gnomAD frequency: 0.00767  dbSNP: rs115974024
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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) RCV000191601 SCV000244978 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 0.01829 (African), derived from 1000 genomes (2012-04-30).
University of Washington Department of Laboratory Medicine, University of Washington RCV000209577 SCV000265013 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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