CeMIA, CeMIA
General information
CeMIA, CeMIA
31 Str. Markrigianni
Larisa
Larisa
Greece - 41334
http://www.cemia.eu
Organization ID: 507447
31 Str. Markrigianni
Larisa
Larisa
Greece - 41334
http://www.cemia.eu
Organization ID: 507447
Personnel
- Sofia Vatsiou, Staff
Phone: +306972501366
Email: [email protected] - Maria Zamanakou, Coordinator
Phone: +306976675504
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 74
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACE | 2 | Feb 28, 2020 |
| BDKRB2 | 1 | Feb 28, 2020 |
| C1S | 1 | Feb 28, 2020 |
| CPN1 | 1 | Feb 28, 2020 |
| DPP4 | 1 | Feb 28, 2020 |
| ELANE | 1 | Feb 28, 2020 |
| F12 | 12 | Oct 30, 2020 |
| GLA | 7 | Apr 27, 2021 |
| KLK3 | 2 | Feb 28, 2020 |
| KNG1 | 2 | Feb 28, 2020 |
| KRT1 | 1 | Feb 28, 2020 |
| LOC106694315 | 1 | Feb 28, 2020 |
| MPO | 1 | Feb 28, 2020 |
| PLAT | 1 | Feb 28, 2020 |
| PLG | 1 | Feb 28, 2020 |
| PROC | 1 | Feb 28, 2020 |
| RPL36A-HNRNPH2 | 7 | Apr 27, 2021 |
| SERPINA1 | 2 | Feb 28, 2020 |
| SERPING1 | 35 | Apr 18, 2021 |
| SLC34A1 | 12 | Oct 30, 2020 |
| TLR2 | 1 | Feb 28, 2020 |
| TLR4 | 1 | Feb 28, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Fabry disease | 7 | Apr 27, 2021 |
| Hereditary angioedema type 1 | 35 | Apr 18, 2021 |
| Hereditary angioedema type 3 | 12 | Oct 30, 2020 |
| Hereditary angioedema with normal C1Inh | 20 | Feb 28, 2020 |