Table 4.
Summary of participants’ clinical diagnosis and their tier 1 clinically curated outcomes (n = 600)
| Clinical Diagnosis | Reported | No Variants Found, n (%) | VUS Found, n (%) | LP/P Variant Found, n (%) |
|---|---|---|---|---|
| Cardiomyopathies | ||||
| HCM | 172 | 46 (27) | 41 (24) | 85 (49) |
| DCM | 159 | 68 (43) | 38 (24) | 53 (33)a |
| ARVC | 39 | 19 (49) | 2 (5) | 18 (46) |
| LVNC | 26 | 15 (58) | 5 (19) | 6 (23) |
| RCM | 5 | 1 (20) | 1 (20) | 3 (60) |
| Total | 401 | 149 (37) | 87 (22) | 165 (41) |
| Arrhythmias | ||||
| BrS | 16 | 10 (63) | 3 (19) | 3 (19) |
| LQTS | 94 | 44 (47) | 10 (11) | 40 (43) |
| CPVT | 9 | 2 (22) | 2 (22) | 5 (56) |
| Total | 119 | 56 (47) | 15 (13) | 48 (40) |
| CHD | ||||
| Familial CHD | 54 | 24 (44) | 20 (37) | 10 (19) |
| CHD + ECA | 26 | 17 (65) | 7 (27) | 2 (8) |
| Total | 80 | 41 (51) | 27 (34) | 12 (15) |
| Overall participant Total | 600 | 246 (41) | 129 (22) | 225 (38) |
ARVC, arrhythmogenic right ventricular cardiomyopathy; BrS, Brugada syndrome; CHD, congenital heart disease; CPVT, catecholaminergic polymorphic ventricular tachycardia; DCM, dilated cardiomyopathy; ECA, extra cardiac anomalies; HCM, hypertrophic cardiomyopathy; LP, likely pathogenic; LQTS, long QT syndrome; LVNC, left ventricular noncompaction; P, pathogenic; RCM, restrictive cardiomyopathy; VUS, variants of uncertain significance.
a
Numbers shown include TTNtv VUS that were reclassified as LP/P following reanalysis after Flagship completion.