Genetic Laboratory (Progenet)
General information
Personnel
- Martina Hikkelova, Variant scientist/curator
Phone: 00421911677303
Email: hikkelova.martina@gmail.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 1
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| DYSF | 1 | Feb 19, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Feb 19, 2024 |