ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3291A>G (p.Glu1097=)

dbSNP: rs2054690236
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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 RCV001400063 SCV001601864 likely benign Fanconi anemia 2024-02-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001400063 SCV002529838 likely benign Fanconi anemia 2020-11-02 criteria provided, single submitter curation

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