ClinVar Miner

Submissions for variant NM_152305.3(POGLUT1):c.292C>T (p.Arg98Trp)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003491074 SCV004238597 likely pathogenic not provided 2023-06-06 criteria provided, single submitter clinical testing
OMIM RCV002287545 SCV002577641 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2R1 2022-10-04 no assertion criteria provided literature only

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.