ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1520-2A>G

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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 RCV003991313 SCV004808642 likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-05-04 criteria provided, single submitter clinical testing ACMG Criteria: PVS1_STR,PM2_SUP,PP4

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