Table 3.
Detection of 1 variant 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 | 2604 | 122 | ≤5 | 21 | 392 | 112 | ≤5 | 1951 |
| ACMG‐23 | 1895 (72.8%) | 59 (48.4%) | ≤5 | 11 (52.4%) | 252 (64.3%) | 73 (65.2%) | ≤5 | 1490 (76.4%) |
| Luminex39 | 2015 (77.4%) | 69 (56.6%) | ≤5 | 12 (57.1%) | 279 (71.2%) | 81 (72.3%) | ≤5 | 1564 (80.2%) |
| Luminex60 | 2066 (79.3%) | 70 (57.4%) | ≤5 | 12 (57.1%) | 313 (79.8%) | 82 (73.2%) | ≤5 | 1579 (80.9%) |
| Agena | 1989 (76.4%) | 65 (53.3%) | ≤5 | 11 (52.4%) | 304 (77.6%) | 75 (67.0%) | ≤5 | 1524 (78.1%) |
| Illumina139 | 2079 (79.8%) | 70 (57.4%) | ≤5 | 12 (57.1%) | 309 (78.8%) | 83 (74.1%) | ≤5 | 1595 (81.8%) |
| WI_expanded | 2025 (77.8%) | 67 (54.9%) | ≤5 | 12 (57.1%) | 319 (81.4%) | 77 (68.8%) | ≤5 | 1540 (78.9%) |
| CFTR2 database | 1900 (73.0%) | 64 (52.5%) | ≤5 | 12 (57.1%) | 313 (79.8%) | 76 (67.9%) | ≤5 | 1425 (73.0%) |
| CF‐causing variants & VVCCs | 2139 (82.1%) | 79 (64.8%) | ≤5 | 12 (57.1%) | 332 (84.7%) | 85 (75.9%) | ≤5 | 1621 (83.1%) |
Abbreviations: CF, cystic fibrosis; CFTR, cystic fibrosis transmembrane conductance regulator; CRMS, CFTR‐related metabolic syndrome; VVCC,variants with varying clinical consequences.