ClinGen PAH Variant Curation Expert Panel (ClinGen), PAH_EP
FDA Recognized Database
General information
ClinGen PAH Variant Curation Expert Panel, PAH_EP
ClinGen
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism-clinical-domain-working-group/pah-variant-curation-expert-panel/
Organization ID: 506558
ClinGen
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism-clinical-domain-working-group/pah-variant-curation-expert-panel/
Organization ID: 506558
Personnel
- Raquel Fernandez, Contact
Phone: 301-718-9603
Email: rfernandez@acmg.net - Meredith Weaver, Coordinator
Phone: 3017189603
Email: mweaver@acmg.net - Diane Zastrow, Contact
Phone: 301-718-9603
Email: thom1618@yahoo.com
Assertion criteria
Level: Expert Panel
Summary of submissions to ClinVar
Total submissions: 761
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| LOC126861615 | 49 | Jan 2, 2024 |
| PAH | 761 | Jan 2, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Phenylketonuria | 761 | Jan 2, 2024 |