Serviço de Genética Médica (Centro Hospitalar e Universitário de São João)
General information
Personnel
- Rita Quental, Principal Investigator
Phone: +351 220426715
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| WAC | 2 | Nov 16, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| DeSanto-Shinawi syndrome due to WAC point mutation | 2 | Nov 16, 2021 |