Basic statistics:
The CFTR-France currently has 5895 individuals recorded, including:
Pathology | Nb | Details |
---|---|---|
Pending non-CF | 15 | - |
Asymptomatic compound heterozygote | 194 | - |
CFTR-RD | 1933 |
|
Pending | 58 | - |
Fetal bowel anomalies | 74 | - |
Pending (NBS) | 273 | - |
CF | 3348 | - |
Variant class | Number |
---|---|
Total | 1011 |
VUS | 377 |
likely benign | 11 |
non disease-causing | 83 |
likely pathogenic | 47 |
disease-causing | 493 |