The Related cases table provides quick access to variant and case-specific details of previous variant interpretations, both within your organization and among organizations in your network(s). The table shows key data at a glance, with more detailed information available when you click on a row.

Related cases table columns

Detailed information (row click)

Clicking on a row reveals additional variant and case-specific details, including:

The Pathogenicity trend bar displays the distribution of previously attributed pathogenicity classifications and enables filtering of the Related cases table based on a selected pathogenicity class.

Color legend

• Green—Benign

• Blue—Likely benign

• Light grey—Variant of uncertain significance

• Orange—Likely pathogenic

• Red—Pathogenic

• Dark grey—Not available

Filtering by pathogenicity

You can filter cases by Pathogenicity by clicking on the corresponding section of the percent bar. To clear filters, click See all.

The Variant page > tab offers a Dynamic CNV overlap percentage filter as well as an Overlap column for CNVs in the data table. This percentage is computed by dividing the length of a common region between CNVs by the size of the CNV under study.

The dynamic CNV overlap percentage filter, located at the top of the Related Cases tab, allows users to manually adjust the lower threshold for between the current CNV and previously reported (candidate) CNVs using a slider.

A candidate CNV is included in the list only if overlap percentage (overlap%) meets or exceeds the threshold set by the slider. In simpler terms: at least that proportion of the candidate CNV must lie within the coordinates of the current CNV.

The Network data view controls enable users to display network-wide case data alongside internal case data, providing a broader context for variant interpretation.

These controls are located on top of the Related cases tab.

Display modes

There are two display modes for the Network data view: Simple mode and Advanced mode. Each mode provides a different level of control depending on your needs.

To change between modes:

• Click Switch to advanced to enable detailed network selection

• Click Switch to simple to return to the basic toggle view

The Related Cases tab highlights variants found in previously analyzed cases, both within your organization and among organizations in your .

One-way CNV annotation overlap measures how much of a candidate CNV (previously reported) is covered by the current CNV.

This value is displayed in the Overlap column of the Related cases table and is used by the CNV overlap percentage filter in the Related Cases tab to refine case results based on a user-defined minimum overlap threshold.

How overlap is calculated