Tumer Group (Copenhagen University Hospital, Rigshospitalet)
General information
Personnel
- Mathis Hildonen, Variant scientist/curator
Phone: +4593841666
Email: mathis.hildonen@regionh.dk - Zeynep Tumer, Principal Investigator
Phone: +4529204855
Email: zeynep.tumer@regionh.dk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 98
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| DLG4 | 71 | Apr 4, 2023 |
| KMT2D | 2 | Nov 4, 2025 |
| LOC126862479 | 18 | Apr 4, 2023 |
| ZNF142 | 25 | Apr 15, 2025 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Intellectual developmental disorder 62 | 71 | Apr 4, 2023 |
| Kabuki syndrome 1 | 2 | Nov 4, 2025 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 25 | Apr 15, 2025 |