Research Unit for Rare Diseases (1st Faculty of Medicine, Charles University in Prague)
General information
Personnel
- Ivana Jedlickova, Staff
Phone: +420224967668
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 22
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Bilateral tonic-clonic seizure | 2 | Oct 22, 2019 |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 3 | Dec 11, 2019 |
| Dementia | 2 | Oct 22, 2019 |
| Megalocornea | 10 | May 10, 2021 |
| Oculofaciocardiodental syndrome | 2 | Jun 19, 2024 |
| Werdnig-Hoffmann disease | 1 | Oct 18, 2019 |
| Wilson disease | 4 | Oct 23, 2024 |