Table 3.
REVEL score distribution for 20 pathogenic and 27 benign variants for RYR1/MH. Likelihood ratio for separation of pathogenic and benign variants based on REVEL scores using cutoff values of ≥0.85 and ≤0.5.
| REVEL score | Pathogenic | Benign | Likelihood ratio (LR) |
Inverse LR | 95% CI |
|---|---|---|---|---|---|
| ≥0.85 | 17 | 1a | 22.68 | 3.27-157.08 | |
| >0.5-<0.85 | 3 | 8 | 0.50 | 2.00 | 0.15-1.66 |
| ≤0.5 | 1a | 19 | 0.07 | 14.29 | 0.01-0.48 |
a
No benign variants were identified with a REVEL score ≥0.85 and no pathogenic variants were identified with a REVEL score ≤0.5, for calculation of LR we used a value of 1.