Skip to main content

Table 4 Testing results for true variants (100 trials per variant)

From: Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm

MLH1 Variant type
Pathogenic Benign
 HWA Call Pathogenic 4890 2
Benign 7 4328
No Call 1403 1370
 Total Trials 6300 5700
 PPV 0.9986
 NPV 0.9995
MSH2 Variant Type
Pathogenic Benign
 HWA Call Pathogenic 2877 1
Benign 1 5388
No Call 822 2011
 Total Trials 3700 7400
 PPV 0.9991
 NPV 0.9999
MSH6 Variant Type
Pathogenic Benign
 HWA Call Pathogenic 1906 1
Benign 0 6955
No Call 1694 4244
 Total Trials 3600 11200
 PPV 0.9989
 NPV 100.0000
\