Unidad de Genética (Hospital Universitario de Canarias)
General information
Unidad de Genética
Hospital Universitario de Canarias
Carretera Ofra S/N
La Laguna, Santa Cruz de Tenerife
Canarias
Spain - 38320
https://www3.gobiernodecanarias.org/sanidad/scs/organica.jsp?idCarpeta=3da5f513-541b-11de-9665-998e1388f7ed
Organization ID: 509623
Hospital Universitario de Canarias
Carretera Ofra S/N
La Laguna, Santa Cruz de Tenerife
Canarias
Spain - 38320
https://www3.gobiernodecanarias.org/sanidad/scs/organica.jsp?idCarpeta=3da5f513-541b-11de-9665-998e1388f7ed
Organization ID: 509623
Personnel
- Ana Alonso Larruga, Variant scientist/curator
Phone: +34 922679009
Email: alonsolarruga.ana@gmail.com - Felícitas Díaz-Flores Estévez, Lab Director
Phone: +34 922679009
Email: fdiazflores@gmail.com - Agustín Francisco González Rivero, Variant scientist/curator
Phone: +34 922679009
Email: agonriv@gobiernodecanarias.org - Fuensanta Gómez Bernal, Variant scientist/curator
Phone: +34 922679009
Email: fgomber@gobiernodecanarias.org - Antonia Pérez Cejas, Variant scientist/curator
Phone: +34 922679009
Email: aperezcejas@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| EMD | 1 | Sep 20, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Emery-Dreifuss muscular dystrophy 1, X-linked | 1 | Sep 20, 2024 |