ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys)

gnomAD frequency: 0.00001  dbSNP: rs1573087364
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001842261 SCV002102461 likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 2022-02-23 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM1, PM5, PS4_SUP, PM2_SUP, PP4, BP4

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