ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.546A>G (p.Leu182=)

gnomAD frequency: 0.00002  dbSNP: rs992376160
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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 RCV002184100 SCV002484141 likely benign not provided 2021-09-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505859 SCV002808283 likely benign Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2022-03-04 criteria provided, single submitter clinical testing

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