ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5074+65G>A (rs8176235)

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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) RCV000191294 SCV000244642 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 0.3322 (Asian), 0.1402 (African), 0.2744 (European), derived from 1000 genomes (2012-04-30).
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000504005 SCV000591571 benign not specified criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000114978 SCV000148878 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.

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