Table 3.

Comparison of manual and automated curation of variants using ACMG guidelines

TAPES (automated curation)
B/LBP/LPVUSNo 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 (automated curation)
B/LBP/LPVUSNo 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.

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