ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=)

gnomAD frequency: 0.00001  dbSNP: rs769844392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866813 SCV001007955 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225755 SCV002505211 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495266 SCV002796848 likely benign Fanconi anemia complementation group D2 2021-11-13 criteria provided, single submitter clinical testing

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