ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4358-2885G>A

gnomAD frequency: 0.30892  dbSNP: rs8176193
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Total submissions: 5
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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) RCV000191344 SCV000244695 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), 0.2154 (African), 0.3588 (European), derived from 1000 genomes (2012-04-30).
GeneDx RCV001651051 SCV001861812 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002222174 SCV002025935 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited RCV000191344 SCV002097599 benign Breast-ovarian cancer, familial, susceptibility to, 1 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651051 SCV005251042 benign not provided criteria provided, single submitter not provided

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