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Table 1 Classification thresholds utilized by the history weighting analysis tool

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

Classification call Log history weighting score compared to pathogenic composite controls Log history weighting score compared to benign composite controls
Pathogenic <99th Percentile <0.5 Percentile - 2.2/2.3/2.2 SD
Weak Pathogenica ≥99th Percentile and ≤ 99.5 Percentile + 0.7/0.9/1.0 SD <0.5 Percentile - 2.2/2.3/2.2 SD
Not Callable >99.5 Percentile + 0.7/0.9/1.0 SD <0.5 Percentile - 2.2/2.3/2.2 SD
Weak Benigna >99.5 Percentile + 0.7/0.9/1.0 SD ≥0.5 Percentile - 2.2/2.3/2.2 SD
≤1st Percentile
Benign >99.5 Percentile + 0.7/0.9/1.0 SD >1st Percentile
Indeterminate All Other Variants
  1. Gene-specific standard deviations (SD) are indicated for MLH1, MSH2 and MSH6, respectively
  2. aPathogenic and benign ECDF control curve thresholds must not overlap
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