Table 3.
Clinical MD Types and ACMG Classifications for VUSs
| ACMG classification | EDMD (N = 13) | LGMD (N = 73) | CMD (N = 44) | DD (N = 14) | Total (N = 144) |
| Benign, n (%) | 1 (7.7) | 5 (6.8) | 11 (25.0) | 6 (42.9) | 23 (16.0) |
| Likely benign, n (%) | 1 (7.7) | 9 (12.3) | 3 (6.8) | 1 (7.1) | 14 (9.7) |
| VUS, n (%) | 11 (84.6) | 48 (65.8) | 21 (47.7) | 4 (28.6) | 84 (58.3) |
| Likely pathogenic, n (%) | 0 0.00 | 4 (5.5) | 5 (11.4) | 1 (7.1) | 10 (6.9) |
| Pathogenic, n (%) | 0 (0.0) | 7 (9.6) | 4 (9.1) | 2 (14.3) | 13 (9.0) |
Abbreviations: CMD = congenital muscular dystrophy; DD = distal muscular dystrophy; EDMD = Emery-Dreifuss muscular dystrophy; LGMD = limb-girdle muscular dystrophy.