Neurogenetic Laboratory (Second Faculty of Medicine, Charles University)
General information
Neurogenetic Laboratory
Second Faculty of Medicine, Charles University
V Uvalu 84
Prague
Czech Republic - 15006
https://www.lf2.cuni.cz/en
Organization ID: 508035
Second Faculty of Medicine, Charles University
V Uvalu 84
Prague
Czech Republic - 15006
https://www.lf2.cuni.cz/en
Organization ID: 508035
Personnel
- Dana Safka Brozkova, Genetic Counselor
Phone: +420224436788
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 1A | 2 | Apr 19, 2021 |
| Autosomal recessive nonsyndromic hearing loss 3 | 2 | Apr 19, 2021 |
| Autosomal recessive nonsyndromic hearing loss 4 | 2 | Apr 19, 2021 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Apr 19, 2021 |
| Autosomal recessive nonsyndromic hearing loss 89 | 2 | Apr 19, 2021 |
| Chudley-McCullough syndrome | 1 | Apr 19, 2021 |
| Hearing loss, autosomal recessive 111 | 1 | Apr 19, 2021 |
| High myopia-sensorineural deafness syndrome | 1 | Apr 19, 2021 |
| X-linked mixed hearing loss with perilymphatic gusher | 1 | Apr 19, 2021 |