ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1609del (p.His537fs)

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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 RCV004555760 SCV005044728 pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 2022-04-12 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PM2_SUP, PP4

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