ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.317-22C>T

gnomAD frequency: 0.00024  dbSNP: rs81002794
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000044138 SCV000072151 likely benign Hereditary breast ovarian cancer syndrome 2024-08-26 criteria provided, single submitter clinical testing
Mendelics RCV000113405 SCV001138952 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV000044138 SCV002025826 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113405 SCV000146576 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 1998-11-30 no assertion criteria provided clinical testing

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