ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1576G>T (p.Gly526Ter)

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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 RCV004555431 SCV005044406 likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly 2024-01-24 criteria provided, single submitter clinical testing ACMG Criteria: PVS1_STR,PM2_SUP,PP4

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