Table 4.
EMPC ≥ 10% cutoff (%) | EMPC ≥ 25% cutoff (%) | EMPC ≥ 40% cutoff (%) | EMPC ≥ 60% cutoff (%) | |
---|---|---|---|---|
Sensitivity | 100 | 78 | 67 | 33 |
Specificity | 18 | 45 | 55 | 68 |
PPV | 33 | 37 | 38 | 30 |
NPV | 100 | 83 | 80 | 71 |
Positive cases were those with likely pathogenic/pathogenic variants whereas all others were deemed negative for the purpose of assessing EMPC performance
EMPC Exeter MODY probability calculator, NPV negative predictive value and PPV positive predictive value