Department of Medical and Surgical Sciences (University of Bologna), DIMEC
General information
Personnel
- Giovanni Innella, Genetic Counselor
Phone: 0512143694
Email: giovanni.innella@studio.unibo.it
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 177
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Breast-ovarian cancer, familial, susceptibility to, 1 | 55 | Jan 8, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 111 | Jan 8, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 1 | Jan 23, 2024 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Dec 6, 2024 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Dec 6, 2024 |
| Coffin-Lowry syndrome | 1 | Dec 6, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Dec 6, 2024 |
| Intellectual developmental disorder with short stature and behavioral abnormalities | 2 | Feb 7, 2024 |
| Lynch syndrome 1 | 1 | Dec 6, 2024 |
| Osteogenesis imperfecta type I | 1 | Jun 5, 2023 |
| Pleuropulmonary blastoma | 1 | Dec 6, 2024 |
| Skraban-Deardorff syndrome | 1 | Oct 27, 2022 |