ClinGen Glaucoma Variant Curation Expert Panel (ClinGen), Glaucoma VCEP
FDA Recognized Database
General information
ClinGen Glaucoma Variant Curation Expert Panel, Glaucoma VCEP
ClinGen
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/affiliation/50053/
Organization ID: 508310
ClinGen
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/affiliation/50053/
Organization ID: 508310
Personnel
- Andrew Dubowsky, Lab Director
Phone: 61 8 8204 6447
Email: andrew.dubowsky@sa.gov.au - Emmanuelle Souzeau, Genetic Counselor
Phone: 61 8 8204 5064
Email: emmanuelle.souzeau@flinders.edu.au
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 265
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| MYOC | 265 | Nov 13, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Glaucoma 1, open angle, E | 63 | Jan 8, 2023 |
| Glaucoma of childhood | 104 | Nov 13, 2023 |
| Open-angle glaucoma | 98 | Nov 13, 2023 |