ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.628G>A (p.Gly210Ser)

dbSNP: rs1567309965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681766 SCV001986131 uncertain significance not provided 2019-12-10 criteria provided, single submitter clinical testing Observed in multiple individuals with familial juvenile hyperuricaemic nephropathy / medullary cystic kidney disease (FJHN/MCKD) in published literature, however, additional information was not available (Bollee et al., 2011); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25786455, 21654721, 21868615)
Gharavi Laboratory, Columbia University RCV000681766 SCV000809227 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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