Immunogenetics and Transplant Biology Service (University Hospital "Città della Salute e della Scienza di Torino")
General information
Immunogenetics and Transplant Biology Service
University Hospital "Città della Salute e della Scienza di Torino"
Turin
Italy - 10126
https://www.cittadellasalute.to.it/
Organization ID: 509292
University Hospital "Città della Salute e della Scienza di Torino"
Turin
Italy - 10126
https://www.cittadellasalute.to.it/
Organization ID: 509292
Personnel
- Tiziana Vaisitti, Staff
Phone: +39(011)6709535
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 19
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Oct 3, 2023 |
| Autosomal dominant Alport syndrome | 1 | Oct 3, 2023 |
| Beckwith-Wiedemann syndrome | 1 | Oct 3, 2023 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Oct 3, 2023 |
| Kabuki syndrome 1 | 1 | Oct 3, 2023 |
| Nephronophthisis 14 | 1 | Oct 3, 2023 |
| Polycystic kidney disease 2 | 1 | Oct 3, 2023 |
| Polycystic kidney disease, adult type | 9 | Oct 4, 2023 |
| Polycystic liver disease 3 with or without kidney cysts | 2 | Oct 4, 2023 |
| Vesicoureteral reflux 2 | 1 | Oct 3, 2023 |