ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1159+4A>T

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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 RCV004598394 SCV005091180 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2024-04-24 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP,PP3,PP4

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