ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2485dup (p.Tyr829fs)

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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 RCV004797667 SCV005419023 pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 2024-10-18 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP,PP4

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