11. ACMG GuidelinesΒΆ

To open VSClinical select the ACMG Guidelines tab and for viewing purposes lets hide the variant table by hovering over the bottom right corner of the variant table and selecting the icon that will appear. Select it and it will stash the variant table view.

report tab

Figure 11-1: Opening VSClincical and stashing variant table view.

At this point the ACMG Guidelines tab is ready to start an evaluation. This requires selecting variants to evaluate by adding them to the To Evaluate variant set. There are two ways to do this selection: from the Variant Table or the Variants to Evaluate section in the current ACMG Guidelines tab. We will proceed by selecting the SMAD4 p.I500V Pathogenic variant in the VSClinical interface. Optionally you could select more variants but we will focus on one variant for this analysis. Once selected it should appear in the To Evaluate section as shown in Figure 11-2. Next, select Start New Evaluation at the bottom of the VSClinical interface and then select Continue after the algorithm queries whether the selected variant has been previously classified in your assesment catalog.

Selecting variants to evaluate

Figure 11-2: Selecting variants to evaluate.