University Children's Hospital (University of Zurich), UZH
Personnel
- Patrick Forny, Administrator
Phone: +41442667310
Email: patrick.forny@gmail.com - Matthias Baumgartner, Lab Director
Phone: +41442667722
Email: matthias.baumgartner@kispi.uzh.ch
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 109
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 48 | Jan 7, 2016 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 41 | Feb 12, 2016 |
| Methylmalonic aciduria, cblA type | 20 | Apr 18, 2017 |