Department of Pediatrics (Salzburger Landeskliniken & Paracelsus Medical University), SALK-PMU
General information
Department of Pediatrics, SALK-PMU
Salzburger Landeskliniken & Paracelsus Medical University
Salzburg
Austria - 5020
https://salk.at/1076.html
Organization ID: 507695
Salzburger Landeskliniken & Paracelsus Medical University
Salzburg
Austria - 5020
https://salk.at/1076.html
Organization ID: 507695
Personnel
- Rene Feichtinger, Staff
Phone: +435725526280
Email: r.feichtinger@salk.at - Johannes Mayr, Contact
Phone: +435725526281
Email: h.mayr@salk.at
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| SYNGAP1 | 1 | Sep 26, 2020 |
| SYNGAP1-AS1 | 1 | Sep 26, 2020 |
| VARS2 | 2 | Feb 22, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Combined oxidative phosphorylation defect type 20 | 2 | Feb 22, 2021 |
| Intellectual disability, autosomal dominant 5 | 1 | Sep 26, 2020 |