ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2397del (p.Glu800fs)

dbSNP: rs1131690796
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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, Cologne University RCV000493294 SCV000579352 pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 no assertion criteria provided clinical testing

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