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: pauferna@vhebron.net
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 |