ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1100C>G (p.Ser367Trp)

dbSNP: rs138178893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546953 SCV001766562 uncertain significance not provided 2019-10-17 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002476851 SCV002785684 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2021-12-21 criteria provided, single submitter clinical testing

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