ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5406+68T>C

gnomAD frequency: 0.01019  dbSNP: rs8176307
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Total submissions: 6
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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) RCV000112639 SCV000244533 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 0.06301 (African), derived from 1000 genomes (2012-04-30).
GeneDx RCV001539590 SCV001757378 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002222164 SCV002025898 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000112639 SCV004016774 benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001539590 SCV005250996 benign not provided criteria provided, single submitter not provided
Breast Cancer Information Core (BIC) (BRCA1) RCV000112639 SCV000145494 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2006-07-19 no assertion criteria provided clinical testing

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