ClinVar Miner

Submissions for variant NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter) (rs121918621)

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
OMIM RCV000013767 SCV000034014 pathogenic Familial renal glucosuria 2002-12-01 no assertion criteria provided literature only
PerkinElmer Genomics RCV000013767 SCV002020716 pathogenic Familial renal glucosuria 2021-04-06 no assertion criteria provided clinical testing

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.