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                options={ {
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ACMG Variant Pathogenicity Calculator

I am building the calculators based on the version of the ACMG guidelines. In the future the ACMG guidelines will be updated to use a Bayesian point system. The most uptodate version of the calculator is based on a slide deck from ClinGen.

This calculator is based on the V3.0 of the ACMG guidelines (Richards et al. 2015). It uses the ACMG criteria from the 2015 publication and incorporates the 2017 updates to the guidelines. Specifically the PM2 criteria was updated to be scored as PM2_Supporting.

This version also uses a modified version of the Bayesian score system from Tavtigian et al. 2020.

The following point values were used for the Bayesian score system to calculate the pathogenicity of a variant:

Thresholds

This calculator is based on the unreleased V4.0 of the ACMG guidelines.