ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9256+5252A>G

gnomAD frequency: 0.21965  dbSNP: rs542551
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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) RCV000191818 SCV000245245 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 0.1923 (Asian), 0.09959 (African), 0.248 (European), derived from 1000 genomes (2012-04-30).
Breakthrough Genomics, Breakthrough Genomics RCV004706638 SCV005236557 benign not provided criteria provided, single submitter not provided

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