Table 4.
Changes in Interpretation and Elimination of Secondary Findings for VUSs by Clinical MD Type
| By variants | |||||
| EDMD (N = 23) | LGMD (N = 84) | CMD (N = 50) | DD (N = 22) | Total (N = 179) | |
| Change in genetic diagnosis, n (%) | |||||
| No | 22 (95.7) | 69 (82.1) | 39 (78.0) | 14 (63.6) | 144 (80.4) |
| Yes | 1 (4.3) | 15 (17.9) | 11 (22.0) | 8 (36.4) | 35 (19.6) |
| Eliminated secondary finding, n (%) | |||||
| No | 22 (95.7) | 74 (88.1) | 40 (80.0) | 20 (90.9) | 156 (87.2) |
| Yes | 1 (4.3) | 10 (11.9) | 10 (20.0) | 2 (9.1) | 23 (12.8) |
| By individuals | |||||
| EDMD (N = 11) | LGMD (N = 49) | CMD (N = 29) | DD (N = 8) | Total (N = 97) | |
| Change in genetic diagnosis, n (%) | |||||
| No | 10 (90.9) | 36 (73.5) | 18 (62.1) | 5 (62.5) | 69 (71.1) |
| Yes | 1 (9.1) | 13 (26.5) | 11 (37.9) | 3 (37.5) | 28 (28.9) |
| Eliminated secondary finding, n (%) | |||||
| No | 10 (90.9) | 40 (81.6) | 22 (75.9) | 7 (87.5) | 79 (81.4) |
| Yes | 1 (9.1) | 9 (18.4) | 7 (24.1) | 1 (12.5) | 18 (18.6) |
Abbreviations: CMD = congenital muscular dystrophy; DD = distal muscular dystrophy; EDMD = Emery-Dreifuss muscular dystrophy; LGMD = limb-girdle muscular dystrophy.