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Comparison of manual and automated curation of variants using ACMG guidelines
| TAPES (automated curation) | |||||
|---|---|---|---|---|---|
| B/LB | P/LP | VUS | No call† | ||
| Manual curation | B/LB | 653 | 3 | 232 | 10 |
| P/LP | 0 | 30 | 19 | 0 | |
| VUS | 40 | 10 | 529 | 4 | |
| NA* | 71 | 0 | 498 | 2 | |
TAPES (tool for assessment and prioritization in exome studies) was used for automated curation.
Predicted values where no review was carried out.
TAPES call where probability of pathogenicity disagreed with TAPES calls with Manual curation.
