Table 3 REVEL score distribution for 20 pathogenic and 27 benign variants for RYR1/MH.

From: Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility

REVEL score

Pathogenic

Benign

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

  1. CI confidence interval, LR likelihood ratio, MH malignant hyperthermia.
  2. Likelihood ratio for separation of pathogenic and benign variants based on REVEL scores using cutoff values of ≥0.85 and ≤0.5.
  3. aNo 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.
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