ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.377+17T>C

gnomAD frequency: 0.00002  dbSNP: rs45593431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002226348 SCV002505180 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487030 SCV002802241 likely benign Fanconi anemia complementation group D2 2021-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101289 SCV003500818 likely benign Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing

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