ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)

dbSNP: rs121913057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018020 SCV000038299 risk factor Hemolytic uremic syndrome, atypical, susceptibility to, 1 2004-03-01 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000018020 SCV001192701 pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 2019-04-26 no assertion criteria provided clinical testing

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