ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.609T>C (p.Ala203=)

gnomAD frequency: 0.00023  dbSNP: rs374019283
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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 RCV002257039 SCV002529535 likely benign Fanconi anemia 2021-04-23 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002502064 SCV002809105 likely benign Fanconi anemia complementation group D2 2021-12-31 criteria provided, single submitter clinical testing
Invitae RCV002257039 SCV003783839 likely benign Fanconi anemia 2023-11-24 criteria provided, single submitter clinical testing

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