ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.547+146A>T (rs8176140)

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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) RCV000112727 SCV000244770 benign Breast-ovarian cancer, familial 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3562 (European), derived from 1000 genomes (2012-04-30).
Breast Cancer Information Core (BIC) (BRCA1) RCV000112727 SCV000145610 uncertain significance Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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