ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.361C>T (p.His121Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004763040 SCV005373430 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005006546 SCV005638540 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2024-03-08 criteria provided, single submitter clinical testing

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