Department of Genetics (Fundacion Jimenez Diaz University Hospital), Genetics-FJD
General information
Department of Genetics, Genetics-FJD
Fundacion Jimenez Diaz University Hospital
http://www.fjd.es/es/cartera-servicios/servicios-centrales/genetica-clinica
Organization ID: 506078
Fundacion Jimenez Diaz University Hospital
http://www.fjd.es/es/cartera-servicios/servicios-centrales/genetica-clinica
Organization ID: 506078
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 24
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 11p partial monosomy syndrome | 1 | Jan 19, 2017 |
| Aniridia 1 | 6 | Jan 19, 2017 |
| Attention deficit hyperactivity disorder | 1 | Apr 18, 2017 |
| Cone-rod dystrophy | 1 | Dec 14, 2020 |
| Intellectual disability, moderate | 3 | Jun 7, 2017 |
| Retinal dystrophy | 2 | Dec 14, 2020 |
| Retinitis pigmentosa | 7 | Dec 14, 2020 |
| Rod-cone dystrophy | 3 | Jun 7, 2017 |
| Stargardt disease | 1 | Dec 14, 2020 |
| Vitelliform macular dystrophy 2 | 2 | Dec 14, 2020 |
| Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome | 1 | Jan 19, 2017 |