ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5075-237C>A

gnomAD frequency: 0.22746  dbSNP: rs8176257
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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) RCV000191265 SCV000244613 benign Breast-ovarian cancer, familial, susceptibility to, 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), 0.1179 (African), 0.2744 (European), derived from 1000 genomes (2012-04-30).
GeneDx RCV001536185 SCV001752907 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001536185 SCV005251014 benign not provided criteria provided, single submitter not provided

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