Table 1.
Detection of 1 variant 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 | 39,192 (83.9%) | 913 (53.7%) | 92 (63.9%) | 91 (41.9%) | 2647 (66.1%) | 867 (76.9%) | 7 (100%) | 34,575 (87.5%) |
| ACMG‐23 | 43,376 (92.8%) | 1247 (73.4%) | 122 (84.7%) | 122 (56.2%) | 3243 (81.0%) | 979 (86.8%) | 7 (100.0%) | 37,656 (95.3%) |
| Luminex39 | 43,891 (93.9%) | 1332 (78.4%) | 123 (85.4%) | 135 (62.2%) | 3386 (84.5%) | 1005 (89.1%) | 7 (100.0%) | 37,903 (95.9%) |
| Luminex60 | 44,150 (94.5%) | 1365 (80.3%) | 125 (86.8%) | 145 (66.8%) | 3540 (88.4%) | 1022 (90.6%) | 7 (100.0%) | 38,046 (96.3%) |
| Agena | 44,176 (94.5%) | 1354 (79.7%) | 126 (87.5%) | 142 (65.4%) | 3534 (88.2%) | 1018 (90.2%) | 7 (100.0%) | 37,995 (96.1%) |
| Illumina139 | 44,589 (95.4%) | 1417 (83.4%) | 131 (91.0%) | 157 (72.4%) | 3601 (89.9%) | 1041 (92.3%) | 7 (100.0%) | 38,235 (96.7%) |
| WI_expanded | 44,683 (95.6%) | 1431 (84.2%) | 131 (91.0%) | 164 (75.6%) | 3699 (92.3%) | 1053 (93.4%) | 7 (100.0%) | 38,198 (96.6%) |
| CFTR2 database | 44,529 (95.3%) | 1429 (84.1%) | 131 (91.0%) | 167 (77.0%) | 3688 (92.1%) | 1050 (93.1%) | 7 (100.0%) | 38,057 (96.3%) |
| CF‐causing variants & VVCCs | 44,902 (96.1%) | 1462 (86.1%) | 131 (91.0%) | 168 (77.4%) | 3729 (93.1%) | 1062 (94.1%) | 7 (100.0%) | 38,343 (97.0%) |
Abbreviations: CF, cystic fibrosis; CFTR, cystic fibrosis transmembrane conductance regulator; VVCC,variants with varying clinical consequences.