ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) (rs137853860)

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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000020294 SCV000267331 likely pathogenic UDPglucose-4-epimerase deficiency 2016-03-18 criteria provided, single submitter reference population
GeneReviews RCV000020294 SCV000040658 pathologic UDPglucose-4-epimerase deficiency 2011-01-25 no assertion criteria provided curation 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.