ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.213-161A>G (rs799912)

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Total submissions: 3
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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) RCV000112024 SCV000244795 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), 0.126 (African), 0.3694 (European), derived from 1000 genomes (2012-04-30).
GeneKor MSA RCV000585719 SCV000693598 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112024 SCV000144672 uncertain significance Breast-ovarian cancer, familial 1 2009-08-07 no assertion criteria provided clinical testing

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