Table 4.
Detection of 2 variants in fully genotyped people with CRMS and CFTR‐related disorder
| CFTR variant panel | Total population | African American/Black non‐Hispanic | American Indian, Alaskan Native, non‐Hispanic | Asian, non‐Hispanic | Hispanic | Mixed races, non‐Hispanic | Native Hawaiian Pacific Islander, non‐Hispanic | White, non‐Hispanic |
|---|---|---|---|---|---|---|---|---|
| Total N | 2608 | 122 | ≤5 | 21 | 392 | 112 | ≤5 | 1951 |
| ACMG‐23 | 587 (22.5%) | 6 (4.9%) | ≤5 | 0 (0%) | 11 (2.8%) | 15 (13.4%) | 0 (0%) | 550 (28.2%) |
| Luminex39 | 879 (33.7%) | 14 (11.5%) | ≤5 | ≤5 (≤23.8%) | 52 (13.3%) | 28 (25.0%) | ≤5 | 770 (39.5%) |
| Luminex60 | 1001 (38.4%) | 15 (12.3%) | ≤5 | ≤5 (≤23.8%) | 90 (23.0%) | 32 (28.6%) | ≤5 | 849 (43.5%) |
| Agena | 755 (28.9%) | 8 (6.6%) | ≤5 | 0 (0%) | 54 (13.8%) | 21 (18.8%) | 0 (0%) | 667 (34.2%) |
| Illumina139 | 939 (36.0%) | 14 (11.5%) | ≤5 | ≤5 (≤23.8%) | 63 (16.1%) | 28 (25.0%) | ≤5 | 819 (42.0%) |
| WI_expanded | 667 (25.6%) | 7 (5.7%) | ≤5 | 0 (0%) | 24 (6.1%) | 17 (15.2%) | 0 (0%) | 614 (31.5%) |
| CFTR2 database | 65 (2.5%) | ≤5 | 0 (0%) | 0 (0%) | 12 (3.1%) | 0 (0%) | 0 (0%) | 48 (2.5%) |
| CF‐causing variants & VVCCs | 1205 (46.2%) | 35 (28.7%) | ≤5 | ≤5 (≤23.8%) | 148 (37.8%) | 40 (35.7%) | ≤5 | 967 (49.6%) |
Abbreviations: CF, cystic fibrosis; CFTR, cystic fibrosis transmembrane conductance regulator; VVCC,variants with varying clinical consequences.