Genetic Diseases Diagnostic Center (Koc University Hospital)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 21
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alkuraya-Kucinskas syndrome | 1 | Nov 9, 2023 |
| Autosomal recessive dyskeratosis congenita 4 | 1 | Nov 2, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Dec 28, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Dec 28, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 | Dec 28, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 | Dec 28, 2018 |
| Central core myopathy | 2 | Dec 28, 2018 |
| Congenital myasthenic syndrome 12 | 2 | Dec 28, 2018 |
| Congenital myasthenic syndrome 8 | 1 | Dec 28, 2018 |
| Familial hypokalemia-hypomagnesemia | 1 | Dec 28, 2018 |
| GNE myopathy | 1 | Dec 28, 2018 |
| Hereditary spastic paraplegia 35 | 2 | Dec 28, 2018 |
| Hereditary spastic paraplegia 7 | 1 | Dec 28, 2018 |
| Hoyeraal-Hreidarsson syndrome | 1 | Nov 2, 2021 |
| Miyoshi muscular dystrophy 1 | 2 | Dec 28, 2018 |
| Spinocerebellar ataxia type 14 | 1 | Dec 28, 2018 |