Thalassemia Center (San Luigi University Hospital), thal
General information
Personnel
- Giorgia Mandrile, Medical Director
Phone: +390119026032
Email: giorgia.mandrile@unito.it
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 22
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AGXT | 15 | Nov 16, 2023 |
| GRHPR | 4 | Nov 16, 2023 |
| HBA2 | 1 | May 12, 2022 |
| HOGA1 | 2 | Nov 16, 2023 |
| LOC106804612 | 1 | May 12, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Primary hyperoxaluria type 3 | 2 | Nov 16, 2023 |
| Primary hyperoxaluria, type I | 15 | Nov 16, 2023 |
| Primary hyperoxaluria, type II | 4 | Nov 16, 2023 |
| alpha Thalassemia | 1 | May 12, 2022 |