Area of Clinical and Molecular Genetics (Hospital Universitario Vall de Hebron), AGCM-HUVH
General information
Area of Clinical and Molecular Genetics, AGCM-HUVH
Hospital Universitario Vall de Hebron
Passeig Vall De Hebron 119-129
Barcelona
Spain - 08035
http://www.vhebron.net/web/laboratoris/genetica
Organization ID: 506117
Hospital Universitario Vall de Hebron
Passeig Vall De Hebron 119-129
Barcelona
Spain - 08035
http://www.vhebron.net/web/laboratoris/genetica
Organization ID: 506117
Personnel
- Paula Fernandez-Alvarez, Staff
Phone: 606003371
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormality of the inner ear | 1 | Apr 6, 2020 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Aug 13, 2023 |
| Heart, malformation of | 1 | Apr 6, 2020 |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 1 | Aug 22, 2017 |
| Intellectual disability, autosomal dominant 40 | 1 | Apr 15, 2021 |
| Intellectual disability, moderate | 3 | Apr 6, 2020 |
| Lissencephaly type 3 | 2 | Sep 9, 2019 |
| Loeys-Dietz syndrome 2 | 1 | Mar 6, 2017 |
| Perisylvian polymicrogyria | 2 | Sep 9, 2019 |
| Postnatal growth retardation | 1 | Apr 6, 2020 |
| Primary microcephaly | 3 | Apr 6, 2020 |
| Sensorineural hearing loss disorder | 2 | Apr 6, 2020 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 2 | Apr 23, 2018 |
| Syndromic intellectual disability | 1 | Sep 2, 2021 |
| Waardenburg syndrome type 4C | 1 | Apr 5, 2018 |
| Werdnig-Hoffmann disease | 2 | Mar 15, 2021 |