ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA

dbSNP: rs1553648931
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
Thalassemia Center, San Luigi University Hospital RCV000186403 SCV004176767 pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter clinical testing ACMG:PVS1 PM1 PM2 PM4
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186403 SCV000239753 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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.