ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1430-19G>A

gnomAD frequency: 0.00019  dbSNP: rs377117137
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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 RCV002161881 SCV002473014 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494500 SCV002802571 likely benign Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2022-04-06 criteria provided, single submitter clinical testing

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