| Monogenic disease score | ||||
---|---|---|---|---|---|
0 (likely complex) | 1 | 2 | 3 | ≥ 4 (likely monogenic) | |
Definite clinical diagnosis | 362 | 121 | 127 | 85 | 67 |
 Likely pathogenic/pathogenic | 82 (23) | 40 (33) | 77 (61) | 58 (68) | 50 (75) |
 Suspicious VUS | 27 (7) | 9 (7) | 18 (14) | 6 (7) | 6 (9) |
Uncertain clinical diagnosis | 32 | 41 | 26 | 12 | 15 |
 Likely pathogenic/pathogenic | 2 (6) | 7 (17) | 5 (19) | 6 (50) | 4 (27) |
 Suspicious VUS | 3 (9) | 3 (7) | 0 (0) | 0 (0) | 1 (7) |
Total cohort | 394 | 162 | 153 | 97 | 82 |
 Likely pathogenic/pathogenic | 84 (21) | 46 (28) | 82 (54) | 64 (66) | 54 (66) |
 Suspicious VUS | 30 (8) | 12 (7) | 18 (12) | 6 (6) | 7 (9) |