Unidade de Genética Molecular (Centro Hospitalar Universitário do Porto), UGM
General information
Unidade de Genética Molecular, UGM
Centro Hospitalar Universitário do Porto
Praça Pedro Nunes 88
Porto
Portugal - 4099-028
https://www.chporto.pt/
Organization ID: 508237
Centro Hospitalar Universitário do Porto
Praça Pedro Nunes 88
Porto
Portugal - 4099-028
https://www.chporto.pt/
Organization ID: 508237
Personnel
- Ana Rita Gonçalves, Coordinator
Phone: 226070304
Email: ana.goncalves@chporto.min-saude.pt - Márcia Oliveira, Coordinator
Phone: 226070304
Email: marcia.oliveira@chporto.min-saude.pt - Rosário Santos, Coordinator
Phone: 226070304
Email: rosariosantos.cgm@chporto.min-saude.pt
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 24
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTN1 | 1 | Jul 7, 2022 |
| DMD | 1 | Dec 14, 2021 |
| EFCAB13-DT | 4 | Jul 21, 2022 |
| GP1BA | 6 | Jul 5, 2022 |
| GP1BB | 2 | May 3, 2022 |
| ITGA2B | 4 | Jul 21, 2022 |
| ITGB3 | 7 | Jul 21, 2022 |
| LOC130060044 | 1 | May 2, 2022 |
| MYH9 | 1 | Jul 7, 2022 |
| RBM8A | 1 | Sep 8, 2021 |
| SEPT5-GP1BB | 2 | May 3, 2022 |
| TUBB1 | 1 | Jul 7, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Becker muscular dystrophy | 1 | Dec 14, 2021 |
| Bernard Soulier syndrome | 7 | May 3, 2022 |
| Bleeding disorder, platelet-type, 24 | 7 | Jul 21, 2022 |
| Glanzmann thrombasthenia 1 | 1 | Jul 21, 2022 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 | Jul 7, 2022 |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 | Jul 7, 2022 |
| Platelet-type bleeding disorder 15 | 1 | Jul 7, 2022 |
| Platelet-type bleeding disorder 16 | 3 | Jul 21, 2022 |
| Pseudo von Willebrand disease | 1 | Jul 5, 2022 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Sep 8, 2021 |