Tablee 2.
Detection of 2 variants in fully genotyped people with CF
| 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 | 46,729 | 1699 | 144 | 217 | 4006 | 1128 | 7 | 39,528 |
| F508del | 20,259 (43.4%) | 242 (14.2%) | 49 (34.0%) | 37 (17.1%) | 977 (24.4%) | 362 (32.1%) | ≤5 (≤71.4%) | 18,587 (47.0%) |
| ACMG‐23 | 31,446 (67.3%) | 537 (31.6%) | 94 (65.3%) | 55 (25.3%) | 1752 (43.7%) | 573 (50.8%) | ≤5 (≤71.4%) | 28,430 (71.9%) |
| Luminex39 | 33,020 (70.7%) | 692 (40.7%) | 96 (66.7%) | 70 (32.3%) | 1983 (49.5%) | 639 (56.6%) | ≤5 (≤71.4%) | 29,535 (74.7%) |
| Luminex60 | 34,630 (74.1%) | 752 (44.3%) | 102 (70.8%) | 80 (36.9%) | 2351 (58.7%) | 699 (62.0%) | ≤5 (≤71.4%) | 30,641 (77.5%) |
| Agena | 34,642 (74.1%) | 746 (43.9%) | 103 (71.5%) | 77 (35.5%) | 2326 (58.1%) | 684 (60.6%) | ≤5 (≤71.4%) | 30,701 (77.7%) |
| Illumina139 | 37,048 (79.3%) | 857 (50.4%) | 112 (77.8%) | 94 (43.3%) | 2499 (62.4%) | 773 (68.5%) | ≤5 (≤71.4%) | 32,708 (82.7%) |
| WI_expanded | 37,946 (81.2%) | 973 (57.3%) | 111 (77.1%) | 108 (49.8%) | 2796 (69.8%) | 809 (71.7%) | 6 (85.7%) | 33,143 (83.8%) |
| CFTR2 database | 36,560 (78.2%) | 969 (57.0%) | 108 (75.0%) | 112 (51.8%) | 2750 (68.6%) | 785 (69.6%) | 6 (85.7%) | 31,830 (80.5%) |
| CF‐causing variants & VVCCs | 39,078 (83.6%) | 1033 (60.8%) | 113 (78.5%) | 117 (53.9%) | 2952 (73.7%) | 857 (76.0%) | ≤5 (≤71.4%) | 34,001 (86.0%) |
Abbreviations: CF, cystic fibrosis; CFTR, cystic fibrosis transmembrane conductance regulator; VVCC,variants with varying clinical consequences.