Servicio Extremeño de Salud (Hospital de Mérida)
General information
Servicio Extremeño de Salud
Hospital de Mérida
Avenida Antonio Campos Hoyos, 26
Mérida (Badajoz)
Extremadura
Spain - 06800
http://saludextremadura.gobex.es/directorio/areassalud/merida
Organization ID: 506167
Hospital de Mérida
Avenida Antonio Campos Hoyos, 26
Mérida (Badajoz)
Extremadura
Spain - 06800
http://saludextremadura.gobex.es/directorio/areassalud/merida
Organization ID: 506167
Personnel
- Miguel Fernandez-Burriel
Phone: +34924381132
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 4
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 1 | Jun 14, 2018 |
| CNGA1 | 1 | Jul 12, 2018 |
| LOC101927157 | 1 | Jul 12, 2018 |
| TBL1XR1 | 1 | Jun 17, 2021 |
| TBL1XR1-AS1 | 1 | Jun 17, 2021 |
| USH2A | 1 | Jul 11, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Pierpont syndrome | 1 | Jun 17, 2021 |
| Retinitis pigmentosa 39 | 1 | Jul 11, 2018 |
| Retinitis pigmentosa 49 | 1 | Jul 12, 2018 |
| Severe early-childhood-onset retinal dystrophy | 1 | Jun 14, 2018 |