Molecular Diagnostics and Clinical Genetics Unit (Hospital Universitari Son Espases/IbSalut), HUSE
General information
Molecular Diagnostics and Clinical Genetics Unit, HUSE
Hospital Universitari Son Espases/IbSalut
C Valldemossa 79
Palma
Spain - 07010
https://www.ibsalut.es/es/
Organization ID: 508297
Hospital Universitari Son Espases/IbSalut
C Valldemossa 79
Palma
Spain - 07010
https://www.ibsalut.es/es/
Organization ID: 508297
Personnel
- Victor Asensio, Staff
Phone: 34619282821
Email: victor.asensio@ssib.es - Damian Heine Suner, Contact
Phone: 34656697862
Email: damian.heine@ssib.es
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Maleylacetoacetate isomerase deficiency | 1 | Jun 21, 2023 |
| Myopathy, tubular aggregate, 1 | 1 | Mar 11, 2024 |
| Nephrotic syndrome | 1 | Oct 25, 2021 |
| Nephrotic syndrome, IIa 26 | 2 | Mar 31, 2023 |