Scripps Translational Science Institute (Scripps Health and The Scripps Research Institute)
General information
Scripps Translational Science Institute
Scripps Health and The Scripps Research Institute
3344 North Torrey Pines Court Suite 300
La Jolla
California
United States - 92037
http://stsiweb.org
Organization ID: 505490
Scripps Health and The Scripps Research Institute
3344 North Torrey Pines Court Suite 300
La Jolla
California
United States - 92037
http://stsiweb.org
Organization ID: 505490
Personnel
- Ali Torkamani, Principal Investigator
Phone: 8585545727
Email: [email protected] - Ali Torkamani, Principal Investigator
Phone: 8585545727
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Borjeson-Forssman-Lehmann syndrome | 1 | Dec 16, 2015 |
| Congenital myasthenic syndrome 9 | 2 | Dec 16, 2015 |
| Developmental and epileptic encephalopathy, 26 | 1 | Dec 16, 2015 |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 | Dec 16, 2015 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Mar 31, 2017 |
| Hypertrophic cardiomyopathy 14 | 1 | Jul 24, 2024 |
| Recurrent infections | 1 | Dec 16, 2015 |
| Schimke immuno-osseous dysplasia | 1 | Dec 16, 2015 |
| Sudden cardiac death | 2 | Dec 4, 2023 |
| Ventricular fibrillation | 1 | Dec 16, 2015 |