ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.482+7G>A

gnomAD frequency: 0.00006  dbSNP: rs765922749
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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 RCV002071342 SCV002330507 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494010 SCV002800614 likely benign Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2022-02-18 criteria provided, single submitter clinical testing

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