ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5193+22C>T

gnomAD frequency: 0.00031  dbSNP: rs8176260
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410946 SCV000489370 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-26 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV000410946 SCV001242366 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723735 SCV001953402 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727611 SCV001975334 benign not specified no assertion criteria provided clinical testing

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