Overview

Variant interpretation refers to understanding biological significance of the variants and recording it by assigning pathogenicity and/or actionability categories. To view variant information, open a case and select the Variants tab.

The exact interpretative actions are different between laboratories and depend on the type of test, report template, and specifics of the given case. Typically, user actions include the following steps:

1. Open the case from the case list and review the subject information for the case.

2. Select the Variants tab to display the variant grid for review and interpretation. a. Customize variant information displayed in the variant grid. For more information, refer to Modify Variant Grid. b. Apply or modify variant filters. For more information, refer to Apply Variant Filters. c. Review variant quality using the Integrative Genomics Viewer (IGV). For more information, refer to IGV Visualizations. d. Flag the variant as needed to support communication between variant reviewers. For more information, refer to Variant Grid.

3. View more information about the variant.

4. Create variant assertions and include the selected variants in the report. For more information, refer to Interpret a Variant.