Table 1 Posterior probability and positive likelihood ratio thresholds for each evidence strength level defined in this study
Truth subset | Variant classification | #Number of variants | Prior probability of pathogenicity | Evidence Strength | Posterior probability of pathogenicity | Positive likelihood ratio |
|---|---|---|---|---|---|---|
Subset 1 | Â | 598 | 0.1338 | Very Strong | 0.9720 | 225.0:1 |
| Â | P/LP | 80 | Â | Strong | 0.6985 | 15.0:1 |
| Â | BL-VUS | 189 | Â | Moderate | 0.3743 | 3.87:1 |
| Â | B/LB | 329 | Â | Supporting | 0.2331 | 1.97:1 |
Subset 2 | Â | 1997 | 0.0931 | Very Strong | 0.9755 | 387.0:1 |
| Â | P/LP | 186 | Â | Strong | 0.6689 | 19.7:1 |
| Â | BL-VUS | 1511 | Â | Moderate | 0.3130 | 4.44:1 |
| Â | B/LB | 300 | Â | Supporting | 0.1778 | 2.11:1 |
Subset 3 | Â | 4951 | 0.2850 | Very Strong | 0.9937 | 397.0:1 |
| Â | P/LP | 1411 | Â | Strong | 0.8882 | 19.9:1 |
| Â | BL-VUS | 3370 | Â | Moderate | 0.6402 | 4.46:1 |
| Â | B/LB | 170 | Â | Supporting | 0.4571 | 2.11:1 |