Basic statistics:
The CFTR-France currently has 5855 individuals recorded, including:
- 5411 probands
- 444 relatives
Patients statistics and pathologies
| Pathology | Nb | Details |
|---|---|---|
| Fetal bowel anomalies | 74 | - |
| Pending | 58 | - |
| Asymptomatic compound heterozygote | 189 | - |
| Pending (NBS) | 271 | - |
| CF | 3339 | - |
| CFTR-RD | 1909 |
|
| Pending non-CF | 15 | - |
| Variant class | Number |
|---|---|
| Total | 1004 |
| disease-causing | 493 |
| likely pathogenic | 46 |
| likely benign | 8 |
| VUS | 374 |
| non disease-causing | 83 |
