Instituto de Biomedicina de Sevilla (Hospital Universitario Virgen del Rocio)
General information
Personnel
- Macarena Cabrera Serrano, Genetic Counselor
Phone: +34 955 923 000
Email: mcabreraserrano@hotmail.com - Beatriz Velez Gomez, Staff
Phone: +34 955 923 000
Email: bvelezgo@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ASAH1 | 1 | Sep 16, 2021 |
| LOC129999940 | 1 | Sep 16, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 1 | Sep 16, 2021 |