ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.108C>A (p.Asn36Lys)

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
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital RCV003983773 SCV004800849 likely pathogenic GTP cyclohydrolase I deficiency with hyperphenylalaninemia no assertion criteria provided clinical testing PM2+PM3+PP3+PP4

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.