ClinGen ACADVL Variant Curation Expert Panel (ClinGen)
FDA Recognized Database
General information
ClinGen ACADVL Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50048/
Organization ID: 508473
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50048/
Organization ID: 508473
Personnel
- Raquel Fernandez, Coordinator
Phone: 301-718-9603
Email: rfernandez@acmg.net
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 214
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACADVL | 214 | Mar 27, 2024 |
| DLG4 | 3 | Apr 11, 2023 |
| DVL2 | 2 | Jun 29, 2023 |
| LOC130060113 | 16 | Mar 27, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Very long chain acyl-CoA dehydrogenase deficiency | 214 | Mar 27, 2024 |