ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=)

gnomAD frequency: 0.00029  dbSNP: rs373461068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257034 SCV002529491 likely benign Fanconi anemia 2021-06-23 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002481064 SCV002804251 likely benign Fanconi anemia complementation group D2 2022-05-19 criteria provided, single submitter clinical testing
Invitae RCV002257034 SCV004268370 likely benign Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing

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