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Table 3 Results of final testing using simulated variants

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

25162

17

Benign

61

50150

No Call

277

333

 Total Trials

25500

50500

 PPV

0.9989

 NPV

0.9992

MSH2

Variant Type

Pathogenic

Benign

 HWA Call

Pathogenic

24904

29

Benign

69

50306

No Call

527

165

 Total Trials

25500

50500

 PPV

0.9971

 NPV

0.9995

MSH6

Variant Type

Pathogenic

Benign

 HWA Call

Pathogenic

25038

6

Benign

23

50322

No Call

439

172

 Total Trials

25500

50500

 PPV

0.9992

 NPV

0.9999

  1. Conditional probabilities tables were constructed based on the entire dataset of 79,214 probands