ClinVar Miner

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

gnomAD frequency: 0.00146  dbSNP: rs139607138
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
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
Invitae RCV000964011 SCV001111190 benign not provided 2023-11-19 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 criteria provided, single submitter 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.