Institute of Experimental Endocrinology (Slovak Academy of Sciences)
General information
Institute of Experimental Endocrinology
Slovak Academy of Sciences
Bratislava
Slovakia - 84505
http://www.bmc.sav.sk/
Organization ID: 505959
Slovak Academy of Sciences
Bratislava
Slovakia - 84505
http://www.bmc.sav.sk/
Organization ID: 505959
Personnel
- Martina Skopkova
Phone: +421903813248
Email: martina.skopkova@savba.sk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Developmental and epileptic encephalopathy, 31 | 1 | Aug 1, 2018 |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 2 | Aug 1, 2018 |
| MEHMO syndrome | 2 | Dec 12, 2016 |
| Maturity-onset diabetes of the young type 1 | 1 | Aug 1, 2018 |
| Maturity-onset diabetes of the young type 3 | 3 | Jun 21, 2021 |
| Sphingolipid activator protein 1 deficiency | 2 | Aug 1, 2018 |
| not specified | 1 | Aug 1, 2018 |