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Table 6 Performance of MmisP and other tools under recommended thresholds

From: MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases

Methods

MmisP

M-CAP

REVEL

Overall accuracy (%)

56.74

52.19

52.54

The proportion of variants classified with recommended (%)

61.12

65.5

55.0

Accuracy of recommended classifications (%)

92.84

79.68

94.54

The proportion of variants with indeterminate classification (%)

38.88

34.5

45.0

Recall (%)

97.81*

41.67

98.39

Precision (%)

89.5

89.28

94.35

Specificity (%)

87.35

97.64

91.34

NPV (%)

97.32

77.99

97.48

  1. Vari_TestThreshold: 294 benign, 277 pathogenic
  2. *p < 0.001