Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona (Hospital Clínic de Barcelona), HCB
General information
Personnel
- Laura Gort, Staff
Phone: 34932275672
Email: lgort@clinic.cat
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 8
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Fabry disease | 1 | Mar 20, 2024 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Apr 8, 2022 |
| Immunodeficiency 47 | 2 | Jan 23, 2024 |
| Intellectual disability, X-linked 1 | 1 | Aug 11, 2015 |
| Mucopolysaccharidosis type 7 | 1 | Apr 28, 2022 |
| Mucopolysaccharidosis, MPS-II | 2 | Mar 20, 2024 |