University Medical Center Utrecht (University Utrecht)
General information
Personnel
- Sabine Fuchs, Principal Investigator
Phone: +31887555555
Email: [email protected] - Irena Muffels, Lab Associate Director
Phone: +31887555555
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 8
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | 4 | Feb 10, 2023 |
| See cases | 2 | Jul 5, 2024 |
| TOP2 deficiency type 1 | 1 | Nov 2, 2024 |
| Undetermined early-onset epileptic encephalopathy | 1 | Dec 22, 2023 |