Institute of Molecular Pathology and Immunology of the University of Porto (University of Porto), IPATIMUP
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 22
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| CBL-related disorder | 3 | Mar 24, 2014 |
| Cardiofaciocutaneous syndrome 1 | 1 | Mar 24, 2014 |
| Noonan syndrome 1 | 6 | Mar 24, 2014 |
| Noonan syndrome 4 | 2 | Mar 24, 2014 |
| Noonan syndrome 5 | 2 | Mar 24, 2014 |
| Noonan syndrome 8 | 1 | Mar 24, 2014 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Mar 24, 2014 |
| not provided | 6 | Mar 24, 2014 |