Table 2 Comparison of variant classifications between a subset of novel PathOS variants submitted to a commercial tertiary analysis platform showing concordance
CTAP | PathOS | ||||
|---|---|---|---|---|---|
Benign | Likely benign | VUS | Likely pathogenic | Pathogenic | |
Benign | 0 | 0 | 0 | 0 | 0 |
Likely benign | 1 | 0 | 0 | 0 | 0 |
VUS | 1 | 0 | 248 | 17 | 29 |
Likely pathogenic | 0 | 0 | 1 | 1 | 9 |
Pathogenic | 0 | 0 | 0 | 0 | 0 |