ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.376T>C (p.Cys126Arg)

dbSNP: rs121917769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002251322 SCV002813861 pathogenic Familial juvenile hyperuricemic nephropathy type 1 2024-06-15 criteria provided, single submitter clinical testing
OMIM RCV002251322 SCV000033292 pathogenic Familial juvenile hyperuricemic nephropathy type 1 2012-01-06 no assertion criteria provided literature only

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