ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) (rs111033818)

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
Counsyl RCV000022271 SCV000485672 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-01-25 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022271 SCV000042956 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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.