Genetics and Personalized Medicine Clinic (Tartu University Hospital), TUH-Gen
General information
Genetics and Personalized Medicine Clinic, TUH-Gen
Tartu University Hospital
2 Puusepa str
Tartu
Estonia - 51014
https://www.kliinikum.ee/geneetika
Organization ID: 505582
Tartu University Hospital
2 Puusepa str
Tartu
Estonia - 51014
https://www.kliinikum.ee/geneetika
Organization ID: 505582
Personnel
- Kaisa Teele Oja, Staff
Phone: +3727319487
Email: kaisateele.oja@kliinikum.ee - Sander Pajusalu, Staff
Phone: +37253997178
Email: sander.pajusalu@kliinikum.ee - Mikk Tooming, Staff
Phone: +3727319487
Email: mikk.tooming@kliinikum.ee
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 24
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| ABCA2-related disorder | 1 | Sep 20, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 | Jan 10, 2024 |
| Dihydropteridine reductase deficiency | 1 | Apr 29, 2019 |
| Leber hereditary optic neuropathy, autosomal recessive | 1 | Jul 10, 2023 |
| Lynch syndrome 1 | 15 | May 25, 2023 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 3 | Sep 3, 2024 |
| Precocious puberty, central, 2 | 1 | Apr 2, 2019 |