Viewing an Evaluation Summary

Evaluation Summary

The first section provides a summary of the variant classification (auto-calculated and modified), disease association, mode of inheritance, and any associated specification document.

Following the summary information, there are three fields available to edit:

A. Modify Classification: pull-down which allows curator to select the pathogenicity

B. Reason(s) for change: free text box for curators to explain why they selected an alternative pathogenicity to the one calculated

C. Evidence Summary: free text box for curators to summarize their evidence and provide a rationale for the clinical significance

Criteria Tables

At the bottom of the Summary page, all of the ACMG criteria are split into three separate tables according their evaluation status. These tables are not editable in Summary View. To make changes, you must return to Interpretation Mode.

Criteria meeting an evaluation strength

Criteria evaluated as 'Not met'

Criteria 'Not yet evaluated'

Each table summarizes the evaluations made for each criterion into the following fields:

• B/P: Red icon indicates pathogenic; purple icon indicates benign. “Met” criteria have ticks in a circle, “Not met” have crosses in a circle, and “Not evaluated” criteria have an empty circle.

• Criteria: Listed using their ACMG criteria codes; color indicates pathogenicity on a scale from ‘purple’ benign to ‘red’ pathogenic.

• Criteria Descriptions: Brief descriptions of the ACMG criteria.

• Modified: For "met" criteria, ‘yes’ or ‘no’ indicates whether the criterion has a modification. "Not met" and "Not evaluated" criteria will display N/A.

• Status: Criteria are shown as “Met”, “Not Met” and “Not evaluated”. Additionally, “Met” indicates any modifications: _Strong, _Moderate, _Supporting, _Very strong, _Stand-alone.

• Explanation: Displays criterion-level explanation provided by the curator.