Ganetzky Laboratory (Children's Hospital of Philadelphia)
General information
Personnel
- Rebecca Ganetzky, Principal Investigator
Phone: 2155903376
Email: GanetzkyR@email.chop.edu - Vamsi Mootha, Principal Investigator
Phone: (617) 643-3059
Email: vamsi_mootha@hms.harvard.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATP5F1B | 1 | Aug 3, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| GCGR-related hyperglucagonemia | 2 | Oct 12, 2023 |
| Hypermetabolism due to Defect in Mitochondrial Coupling | 1 | Aug 3, 2022 |