ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.93G>C (p.Trp31Cys)

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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 Nephrology, Zhong Da Hospital, Southeast University School Of Medicine RCV003334085 SCV003919098 pathogenic Familial juvenile hyperuricemic nephropathy type 1 2023-04-10 no assertion criteria provided provider interpretation Patients of the family manifests as the clinical characteristics of autosomal dominant tubulointerstitial kidney disease(ADTKD). UMOD is the pathogenic gene of ADTKD, so we considered that the new variant pathogenic to this family.

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