PG23_Medical Genetics Lab (ASST Papa Giovanni XXIII), LGM
General information
PG23_Medical Genetics Lab, LGM
ASST Papa Giovanni XXIII
Piazza OMS, 1
Bergamo
Italy - 24127
http://www.asst-pg23.it/
Organization ID: 507220
ASST Papa Giovanni XXIII
Piazza OMS, 1
Bergamo
Italy - 24127
http://www.asst-pg23.it/
Organization ID: 507220
Personnel
- Maria Iascone, Lab Director
Phone: +390352678112
Email: maria.iascone@gmail.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Aneurysm-osteoarthritis syndrome | 1 | Sep 16, 2024 |
| Aortic aneurysm, familial thoracic 4 | 1 | Sep 16, 2024 |
| Aortic valve disease 1 | 1 | Sep 16, 2024 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 1 | Sep 10, 2024 |
| Confusion | 1 | Jan 12, 2023 |
| Ehlers-Danlos syndrome, cardiac valvular type | 1 | Sep 16, 2024 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 | Sep 16, 2024 |
| Ehlers-Danlos syndrome, type 4 | 1 | Sep 16, 2024 |
| Polycystic kidney disease, adult type | 2 | Sep 16, 2024 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 2 | Jul 4, 2022 |