Medical Genetics Unit (Azienda USL-IRCCS di Reggio Emilia), SSDGC
General information
Medical Genetics Unit, SSDGC
Azienda USL-IRCCS di Reggio Emilia
Viale Risorgimento 80
Reggio Emilia
Emilia-Romagna
Italy - 42123
https://www.ausl.re.it/
Organization ID: 506424
Azienda USL-IRCCS di Reggio Emilia
Viale Risorgimento 80
Reggio Emilia
Emilia-Romagna
Italy - 42123
https://www.ausl.re.it/
Organization ID: 506424
Personnel
- Stefano Caraffi, Variant scientist/curator
Phone: 00390522296158
Email: stefanogiuseppe.caraffi@ausl.re.it
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 42
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ANKRD11 | 14 | May 6, 2023 |
| LOC111721705 | 1 | Jan 10, 2024 |
| ZEB2 | 23 | Jan 10, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| KBG syndrome | 19 | May 6, 2023 |
| Mowat-Wilson syndrome | 23 | Jan 10, 2024 |