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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