Basic statistics:
The CFTR-France currently has 5962 individuals recorded, including:
- 5508 probands
- 454 relatives
Patients statistics and pathologies
| Pathology | Nb | Details |
|---|---|---|
| Pending | 59 | - |
| Asymptomatic compound heterozygote | 198 | - |
| CFTR-RD | 1947 |
|
| Fetal bowel anomalies | 73 | - |
| Pending non-CF | 14 | - |
| Pending (NBS) | 271 | - |
| CF | 3400 | - |
| Variant class | Number |
|---|---|
| Total | 1046 |
| likely benign | 28 |
| VUS | 350 |
| disease-causing | 526 |
| non disease-causing | 85 |
| likely pathogenic | 57 |
