ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.611G>A (p.Arg204His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004726185 SCV005334738 uncertain significance not provided 2023-05-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005017226 SCV005638520 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2024-04-19 criteria provided, single submitter clinical testing

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