ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2349C>T (p.Asp783=)

gnomAD frequency: 0.00003  dbSNP: rs768234660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001396120 SCV001597842 likely benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820095 SCV002069957 likely benign not specified 2019-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499837 SCV002804697 likely benign Fanconi anemia complementation group I 2021-10-20 criteria provided, single submitter clinical testing

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