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Table 3 Pathogenicity and Digenic Effect prediction

From: Oligogenic basis of premature ovarian insufficiency: an observational study

Sample ID

Gene

Alleles

VarCoPP

Digenic Effect

Prediction score

Predicted class

Confidence zone

True digenic

Monogenic + modifier

Dual molecular diagnosis

Predicted class

64

RAD52

NC_000012.11 (NM_134424.4) c.1037 C > A

1.0

Disease-causing

99.9%

0.42

0.35

0.23

True digenic

MSH6

NC_000002.11 (NM_000179.3) c.4068_4071dupTTGA

66

RAD52

NC_000012.11 (NM_134424.4) c.1037 C > A

1.0

Disease-causing

99.9%

0.34

0.44

0.22

Monogenic + modifier

MSH6

NC_000002.11 (NM_000179.3) c.3488 A > T