Fundacion Rioja Salud (Center for Biomedical Research (CIBIR))
General information
Personnel
- Elena Dominguez
Phone: 0034608745644
Email: edominguez@riojasalud.es
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 11
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CDH1 | 1 | Mar 21, 2016 |
| COL4A3 | 3 | Mar 21, 2016 |
| EP300 | 7 | Sep 26, 2016 |
| LOC130067530 | 1 | Sep 26, 2016 |
| MFF-DT | 3 | Mar 21, 2016 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant Alport syndrome | 3 | Mar 21, 2016 |
| Hereditary diffuse gastric adenocarcinoma | 1 | Mar 21, 2016 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 7 | Sep 26, 2016 |