ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1487C>T (p.Ser496Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004556940 SCV005045588 likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly 2023-02-24 criteria provided, single submitter clinical testing ACMG Criteria: PS4, PS3, PP3 | PM2_SUP, PP3

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