Division of Genetic Medicine (Lausanne University Hospital), CHUV-DGM
General information
Division of Genetic Medicine, CHUV-DGM
Lausanne University Hospital
CHUV BH19
Lausanne
Vaud
Switzerland - 1011
http://www.chuv.ch/fr/laboratoires/dl-home/le-departement-en-bref/unites/service-de-medecine-genetique/
Organization ID: 506643
Lausanne University Hospital
CHUV BH19
Lausanne
Vaud
Switzerland - 1011
http://www.chuv.ch/fr/laboratoires/dl-home/le-departement-en-bref/unites/service-de-medecine-genetique/
Organization ID: 506643
Personnel
- Virginie Peter, Staff
Phone: +41797385612
Email: virginie.peter@unil.ch - Beryl Royer-Bertrand, Informatics staff
Phone: 0041213144355
Email: beryl.royer@chuv.ch
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 10
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acute otitis media | 1 | Jan 22, 2021 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | 1 | Jul 5, 2018 |
| Cutis marmorata | 1 | Jan 22, 2021 |
| EN1 syndrome | 1 | Dec 21, 2020 |
| ENDOVES (EN1-associated dorsoventral syndrome) | 2 | Dec 21, 2020 |
| Global developmental delay | 1 | Jan 22, 2021 |
| Liberfarb syndrome | 1 | Nov 8, 2019 |
| Propionic acidemia | 1 | Jan 13, 2021 |
| Recurrent lower respiratory tract infections | 1 | Jan 22, 2021 |
| Recurrent upper respiratory tract infections | 1 | Jan 22, 2021 |
| TPP2 deficiency | 1 | Jan 22, 2021 |
| Thrombocytopenia | 1 | Jan 22, 2021 |
| Usher syndrome, type 4 | 3 | Jan 11, 2021 |