ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.-40+222C>T

gnomAD frequency: 0.21644  dbSNP: rs9562605
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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) RCV000191547 SCV000244914 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 0.3199 (Asian), 0.1382 (African), 0.1939 (European), derived from 1000 genomes (2012-04-30).
GeneDx RCV001725135 SCV001960807 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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