Basic statistics:
The CFTR-France currently has 5963 individuals recorded, including:
- 5509 probands
- 454 relatives
Patients statistics and pathologies
| Pathology | Nb | Details |
|---|---|---|
| Fetal bowel anomalies | 73 | - |
| Asymptomatic compound heterozygote | 198 | - |
| Pending (NBS) | 272 | - |
| Pending | 59 | - |
| CF | 3400 | - |
| Pending non-CF | 14 | - |
| CFTR-RD | 1947 |
|
| Variant class | Number |
|---|---|
| Total | 1047 |
| disease-causing | 529 |
| likely pathogenic | 57 |
| non disease-causing | 86 |
| VUS | 338 |
| likely benign | 37 |
