Table 3.
Individual ACMG criterion assigned by S-BCAW in 25 positive cases
| ACMG criterion | No. of assigned to causative variants in S-BCAW | Concordance (omit strength shift) | ||
|---|---|---|---|---|
| Automation group in S-BCAW | With shifted strength | Before manual review | After manual review | |
| Fully auto assigned | PVS1_Moderate | 2 | 1 | 96% |
| PVS1 | 24 | 24 | ||
| PM2_Supporting | 37 | 38 | 95% | |
| PP2 | 0 | 0 | − | |
| PP3_Strong | 3 | 3 | 80% | |
| PP3_Moderate | 3 | 1 | ||
| PP3 | 4 | 4 | ||
| Preassigned by partial resource | PS1 | 0 | 0 | 56% |
| PS4 | 0 | 1 | ||
| PS4_Supporting | 0 | 2 | ||
| PM3_VeryStrong | 0 | 6 | ||
| PM3_Strong | 0 | 7 | ||
| PM3 | 0 | 11 | ||
| PM3_Supporting | 13 | 8 | ||
| PM3_Tentative | 7 | 0 | ||
| PM5 | 0 | 1 | ||
| Not assigned, only partial resource collected | PP1_Moderate | Not applicable | 1 | Not applicable |
| PP1 | 2 | |||
| PP4 | 3 | |||
| PS2_Supporting | 0 | |||
| PS3_Moderate | 1 | |||
| PM4 | 1 | |||
| Total | 93 | 115 | 75% | |