ClinVar Miner

Submissions for variant NM_003359.4(UGDH):c.421C>T (p.Arg141Cys)

gnomAD frequency: 0.00554  dbSNP: rs115137663
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246870 SCV002516716 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711913 SCV005257307 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003916407 SCV004729304 benign UGDH-related disorder 2022-12-20 no assertion criteria provided clinical testing This variant is classified as 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.