ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)

dbSNP: rs150463750
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
New York Genome Center RCV001837207 SCV002097696 uncertain significance Congenital hyperammonemia, type I 2020-07-10 criteria provided, single submitter clinical testing
Invitae RCV001837207 SCV003525896 likely benign Congenital hyperammonemia, type I 2023-12-01 criteria provided, single submitter 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.