ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.*781C>T

gnomAD frequency: 0.00732  dbSNP: rs8176319
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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) RCV000119244 SCV000244516 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 0.03049 (African), derived from 1000 genomes (2012-04-30).
Counsyl RCV000119244 SCV000154022 benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-02-17 criteria provided, single submitter literature only
Illumina Laboratory Services, Illumina RCV000365227 SCV000403042 likely benign Hereditary breast ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001555422 SCV001776841 likely benign not provided 2019-06-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818290 SCV002065555 benign not specified 2017-12-11 criteria provided, single submitter clinical testing

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