ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp)

gnomAD frequency: 0.00146  dbSNP: rs139607138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002251356 SCV000395527 likely benign Familial juvenile hyperuricemic nephropathy type 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000964011 SCV001111190 benign not provided 2024-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000964011 SCV001983833 uncertain significance not provided 2021-10-22 criteria provided, single submitter clinical testing 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
PreventionGenetics, part of Exact Sciences RCV004544570 SCV004771804 likely benign UMOD-related disorder 2019-04-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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