ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys)

dbSNP: rs1553517387
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 RCV000672099 SCV000797164 uncertain significance Congenital hyperammonemia, type I 2018-02-05 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000672099 SCV005418561 uncertain significance Congenital hyperammonemia, type I criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate

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.