ClinGen Platelet Disorders Variant Curation Expert Panel (ClinGen)
FDA Recognized Database
General information
ClinGen Platelet Disorders Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States
https://clinicalgenome.org/affiliation/50040/
Organization ID: 507662
ClinGen
Bethesda
Maryland
United States
https://clinicalgenome.org/affiliation/50040/
Organization ID: 507662
Personnel
- Kristy Lee, Contact
Phone: 9198433158
Email: kristy_lee@med.unc.edu
Assertion criteria
Level: Expert Panel
Summary of submissions to ClinVar
Total submissions: 539
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| EFCAB13-DT | 14 | Sep 29, 2023 |
| ITGA2B | 310 | Dec 22, 2023 |
| ITGB3 | 228 | Dec 21, 2023 |
| LOC110121475 | 2 | Aug 25, 2021 |
| LOC130060983 | 7 | Dec 21, 2023 |
| LOC130061041 | 1 | Jun 22, 2023 |
| LOC130061043 | 6 | Dec 21, 2023 |
| LOC130061044 | 6 | Dec 21, 2023 |
| LOC130061045 | 6 | Jun 22, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Glanzmann thrombasthenia | 539 | Dec 22, 2023 |