Laboratory of Genetics (Children's Clinical University Hospital Latvia)
General information
Laboratory of Genetics
Children's Clinical University Hospital Latvia
Vienības Gatve 45
Riga
Latvia - LV1004
https://bkus.lv/lv
Organization ID: 509237
Children's Clinical University Hospital Latvia
Vienības Gatve 45
Riga
Latvia - LV1004
https://bkus.lv/lv
Organization ID: 509237
Personnel
- Dace Enkure, Lab Director
Phone: +37167064906
Email: dace.enkure@bkus.lv - Dmitrijs Rots, Variant scientist/curator
Phone: +3712281508
Email: dmitrijs.rots@bkus.lv
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 263
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| EHMT1 | 106 | Jun 11, 2024 |
| KMT2C | 81 | May 21, 2024 |
| LOC123956272 | 1 | May 21, 2024 |
| LOC129999675 | 1 | May 21, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 9q34.3 microduplication-related neurodevelopmental disorder | 11 | Aug 14, 2023 |
| KMT2C-related NDD | 83 | May 21, 2024 |
| Kleefstra syndrome 1 | 169 | Jun 11, 2024 |