Basic statistics:
The CFTR-France currently has 5959 individuals recorded, including:
- 5506 probands
- 453 relatives
Patients statistics and pathologies
| Pathology | Nb | Details |
|---|---|---|
| CF | 3397 | - |
| Pending non-CF | 14 | - |
| Pending | 59 | - |
| Asymptomatic compound heterozygote | 198 | - |
| Pending (NBS) | 271 | - |
| Fetal bowel anomalies | 73 | - |
| CFTR-RD | 1947 |
|
| Variant class | Number |
|---|---|
| Total | 1045 |
| likely pathogenic | 56 |
| likely benign | 28 |
| non disease-causing | 85 |
| VUS | 351 |
| disease-causing | 525 |
