ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.976-5T>C

gnomAD frequency: 0.00001  dbSNP: rs775680372
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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 RCV000871773 SCV001013485 likely benign Fanconi anemia 2024-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501313 SCV002808662 likely benign Fanconi anemia complementation group I 2022-04-26 criteria provided, single submitter clinical testing

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