HHT Research Lab - C. Olivieri (University of Pavia)
General information
Personnel
- Claudia Cantarini, Variant scientist/curator
Phone: 0382987730
Email: [email protected] - Carla Olivieri, Principal Investigator
Phone: 0382987730
Email: [email protected] - Anna Sbalchiero, Variant scientist/curator
Phone: 0382987730
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACVRL1 | 1 | Jun 26, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Jun 26, 2023 |