ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.154T>G (p.Cys52Gly)

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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 RCV004698934 SCV005200662 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2024-07-24 criteria provided, single submitter clinical testing ACMG Criteria: PM1,PM5,PP3_MOD,PM2_SUP

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