InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines  Quan Li, Kai Wang  The American Journal of Human Genetics  Volume 100, Issue 2, Pages 267-280 (February 2017) DOI: 10.1016/j.ajhg.2017.01.004 Copyright © 2017 American Society of Human Genetics Terms and Conditions

Figure 1 Flowchart of the Two-Step Procedure of InterVar Underlined and bold fonts denote automated criteria. The American Journal of Human Genetics 2017 100, 267-280DOI: (10.1016/j.ajhg.2017.01.004) Copyright © 2017 American Society of Human Genetics Terms and Conditions

Figure 2 Illustration of the 28 Criteria from the 2015 ACMG-AMP Guidelines For some criteria, the name of the internal database and its size are denoted within parentheses. The American Journal of Human Genetics 2017 100, 267-280DOI: (10.1016/j.ajhg.2017.01.004) Copyright © 2017 American Society of Human Genetics Terms and Conditions

Figure 3 AAF Distribution of Pathogenic or Likely Pathogenic ClinVar Variants Predicted to Be Benign or Likely Benign by InterVar and All Pathogenic or Likely Pathogenic ClinVar Variants The American Journal of Human Genetics 2017 100, 267-280DOI: (10.1016/j.ajhg.2017.01.004) Copyright © 2017 American Society of Human Genetics Terms and Conditions

Figure 4 Illustration of wInterVar (A) Automatic interpretation of genetic variants, which can be entered by several means. (B) Once users click “adjust,” the full list of criteria is shown for manual adjustment, after which the final results are given. The American Journal of Human Genetics 2017 100, 267-280DOI: (10.1016/j.ajhg.2017.01.004) Copyright © 2017 American Society of Human Genetics Terms and Conditions