ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.209_216dup (p.Phe73fs)

dbSNP: rs1553509010
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477877 SCV000536801 likely pathogenic Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 2016-06-21 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.