ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1263C>A (p.Leu421=)

dbSNP: rs376956791
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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 RCV002255937 SCV002536488 likely benign Fanconi anemia 2021-05-20 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002505899 SCV002805741 likely benign Fanconi anemia complementation group I 2021-11-18 criteria provided, single submitter clinical testing
Invitae RCV002255937 SCV004455014 likely benign Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing

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