ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.586G>A (p.Asp196Asn)

dbSNP: rs1965729129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002251408 SCV002581172 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2022-07-21 criteria provided, single submitter clinical testing
OMIM RCV002251408 SCV001478876 pathogenic Familial juvenile hyperuricemic nephropathy type 1 2025-02-26 no assertion criteria provided literature only

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