ClinGen Brain Malformations Variant Curation Expert Panel (ClinGen), BrainMalform VCEP
FDA Recognized Database
General information
ClinGen Brain Malformations Variant Curation Expert Panel, BrainMalform VCEP
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50020/
Organization ID: 508252
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50020/
Organization ID: 508252
Personnel
- Abbe Lai, Coordinator
Phone: 617-919-4371
Email: Abbe.Lai@childrens.harvard.edu - Aubrie Soucy, Coordinator
Phone: 617-919-4371
Email: Aubrie.Soucy@childrens.harvard.edu
Assertion criteria
Level: Expert Panel
Summary of submissions to ClinVar
Total submissions: 43
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 43 | Feb 18, 2022 |