ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4357+117G>A

gnomAD frequency: 0.06818  dbSNP: rs3737559
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Total submissions: 4
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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) RCV000112322 SCV000244709 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 0.08566 (Asian), 0.03862 (African), 0.07916 (European), derived from 1000 genomes (2012-04-30).
GeneDx RCV001698500 SCV001916718 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698500 SCV005251049 benign not provided criteria provided, single submitter not provided
Breast Cancer Information Core (BIC) (BRCA1) RCV000112322 SCV000145066 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2009-08-07 no assertion criteria provided clinical testing

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