ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.206-20C>A

gnomAD frequency: 0.00013  dbSNP: rs200170760
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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 RCV002226345 SCV002505177 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502046 SCV002797199 likely benign Fanconi anemia complementation group D2 2022-03-16 criteria provided, single submitter clinical testing
Invitae RCV003089210 SCV003251180 likely benign Fanconi anemia 2023-11-14 criteria provided, single submitter clinical testing

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