Basic statistics:
The CFTR-France currently has 5854 individuals recorded, including:
- 5410 probands
- 444 relatives
Patients statistics and pathologies
| Pathology | Nb | Details |
|---|---|---|
| Asymptomatic compound heterozygote | 189 | - |
| Pending (NBS) | 273 | - |
| CF | 3335 | - |
| Fetal bowel anomalies | 74 | - |
| Pending non-CF | 15 | - |
| Pending | 59 | - |
| CFTR-RD | 1909 |
|
| Variant class | Number |
|---|---|
| Total | 1004 |
| VUS | 374 |
| non disease-causing | 83 |
| likely pathogenic | 46 |
| likely benign | 8 |
| disease-causing | 493 |
