ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1399T>C (p.Cys467Arg)

gnomAD frequency: 0.00001  dbSNP: rs1724402529
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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 RCV001931246 SCV002201875 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491946 SCV002789077 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2022-05-09 criteria provided, single submitter clinical testing

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