Fondazione Telethon (Telethon Institute of Genetics and Medicine)
General information
Fondazione Telethon
Telethon Institute of Genetics and Medicine
Via Campi Flegrei 34
Pozzuoli
Campania
Italy - 80078
http://www.tigem.it/
Organization ID: 507498
Telethon Institute of Genetics and Medicine
Via Campi Flegrei 34
Pozzuoli
Campania
Italy - 80078
http://www.tigem.it/
Organization ID: 507498
Personnel
- Gerarda Cappuccio, Medical Director
Phone: 00393206583902
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 21
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Chiari malformation | 1 | Mar 12, 2020 |
| Developmental and epileptic encephalopathy 101 | 1 | Oct 5, 2022 |
| Developmental and epileptic encephalopathy, 27 | 2 | Oct 5, 2022 |
| Intellectual disability | 15 | Sep 23, 2022 |
| Landau-Kleffner syndrome | 2 | Oct 5, 2022 |