Department of Medical Genetics (University of Pecs), DMG-UP
General information
Department of Medical Genetics, DMG-UP
University of Pecs
Szigeti u. 12
Pecs
Hungary - 7624
http://aok.pte.hu/en/egyseg/index/200
Organization ID: 506803
University of Pecs
Szigeti u. 12
Pecs
Hungary - 7624
http://aok.pte.hu/en/egyseg/index/200
Organization ID: 506803
Personnel
- Bela Melegh, Lab Director
Phone: 003672536427
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 7
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Mar 12, 2019 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 1 | Dec 4, 2018 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 | May 16, 2019 |
| Leber congenital amaurosis with early-onset deafness | 1 | Jan 28, 2022 |
| Moyamoya disease 2 | 1 | May 8, 2019 |
| Tuberous sclerosis 1 | 2 | May 13, 2019 |