Genomic Medicine (Universita Cattolica del Sacro Cuore)
General information
Genomic Medicine
Universita Cattolica del Sacro Cuore
Largo F. Vito 1
Roma
Italy - 00168
https://roma.unicatt.it/
Organization ID: 507782
Universita Cattolica del Sacro Cuore
Largo F. Vito 1
Roma
Italy - 00168
https://roma.unicatt.it/
Organization ID: 507782
Personnel
- Marcella Zollino, Lab Director
Phone: +390630154606
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 9
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Developmental and epileptic encephalopathy, 2 | 1 | Oct 7, 2020 |
| Intellectual disability, autosomal dominant 40 | 1 | Dec 21, 2022 |
| Koolen-de Vries syndrome | 2 | Jul 5, 2024 |
| Mowat-Wilson syndrome | 1 | Jul 5, 2024 |
| See cases | 4 | Jan 12, 2023 |