Basic statistics:
The CFTR-France currently has 5735 individuals recorded, including:
Pathology | Nb | Details |
---|---|---|
Pending (NBS) | 270 | - |
CFTR-RD | 1838 |
|
Pending | 58 | - |
Pending non-CF | 15 | - |
CF | 3297 | - |
Fetal bowel anomalies | 74 | - |
Asymptomatic compound heterozygote | 183 | - |
Variant class | Number |
---|---|
Total | 989 |
likely pathogenic | 45 |
disease-causing | 500 |
VUS | 361 |
non disease-causing | 76 |
likely benign | 7 |