ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.583T>C (p.Cys195Arg)

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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 RCV004598371 SCV005091157 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2024-07-08 criteria provided, single submitter clinical testing ACMG Criteria: PM1,PM5,PM2_SUP,PP3,PP4

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