ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1513-16A>C

gnomAD frequency: 0.00002  dbSNP: rs768296894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002112623 SCV002400557 likely benign Fanconi anemia 2024-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507987 SCV002809590 likely benign Fanconi anemia complementation group I 2022-03-11 criteria provided, single submitter clinical testing

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