Biomedical Innovation Departament (CIEMAT), BioINN
General information
Personnel
- Angeles Mencia, Staff
Phone: 0034913466438
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 218
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| COL17A1 | 9 | Mar 10, 2021 |
| COL7A1 | 136 | May 13, 2024 |
| FERMT1 | 7 | Mar 10, 2021 |
| ITGA6 | 1 | Mar 10, 2021 |
| ITGB4 | 14 | Mar 10, 2021 |
| KRT14 | 11 | Mar 10, 2021 |
| KRT5 | 21 | Mar 10, 2021 |
| LAMA3 | 3 | Mar 10, 2021 |
| LAMB3 | 5 | Mar 10, 2021 |
| LAMC2 | 6 | Mar 10, 2021 |
| LOC126861525 | 7 | Mar 10, 2021 |
| LOC126861526 | 7 | Mar 10, 2021 |
| MIR711 | 2 | Mar 10, 2021 |
| MIR936 | 1 | Mar 10, 2021 |
| PLEC | 4 | Mar 10, 2021 |
| SPINK5 | 1 | Mar 10, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Epidermolysis bullosa dystrophica | 134 | May 13, 2024 |
| Epidermolysis bullosa simplex | 35 | Mar 10, 2021 |
| Junctional epidermolysis bullosa | 24 | Mar 10, 2021 |
| Junctional epidermolysis bullosa with pyloric atresia | 14 | Mar 10, 2021 |
| Kindler syndrome | 7 | Mar 10, 2021 |
| Netherton syndrome | 1 | Mar 10, 2021 |
| Recessive dystrophic epidermolysis bullosa | 2 | Aug 20, 2020 |
| Simplex epidermolysis bullosa_Ogna type | 1 | Mar 10, 2021 |