ClinVar Miner

Submissions for variant HPRT CHICAGO

dbSNP: rs2077615673
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 RCV000010718 SCV000030944 pathogenic Lesch-Nyhan syndrome 1989-07-01 no assertion criteria provided literature only
OMIM RCV001255648 SCV001432209 pathogenic HPRT CHICAGO 1989-07-01 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.