Related Cases Tab

The Related Cases tab highlights tagged variants that appear in previously analyzed cases, both within your organization and among organizations in your network(s).

Note: data is automatically lifted over between genome references on the fly.

The tab features:

Network data View mode switch

1. Simple mode allows you to show or hide Network data altogether.

1. Advanced mode gives you the flexibility to select specific networks to display.

A percent bar that illustrates trends in previously attributed Pathogenicity

1. Green - Benign,

2. Blue - Likely Benign,

3. Light grey - VUS,

4. Orange - Likely Pathogenic,

5. Red - Pathogenic,

6. Dark grey - N/A;

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

CNV variants: Dynamic CNV overlap percentage filter

The filter allows to manually adjust the lower limit of one-way annotation overlap between the current CNV and CNVs that have been reported earlier by using a slider.

A table that summarizes details of previous variant interpretation

Variant and case specifics are available with a single click on the corresponding row of the table:

• Variant Interpretation,

• ACMG tags,

• selected disease,

• Proband ID,

• proband phenotypes,

• proband age,

• proband sex,

• maternal and paternal ethnicity,

• case type.

The table comprises the following information:

1. Collaborator

The organization from which the case originates. Either your organization or the collaborating organization that is part of your network.

1. Case status icon

1. Lock icon

The lock icon is displayed for cases that have opted out of extended sharing.

1. Case ID

Displays the Case ID and the reference genome used.

1. Variant Details (CNV variants)

Displays variant coordinates in GRCh37 and GRCh38 genome references, along with the CNV length.

1. Overlap (CNV variants)

CNV annotation overlap percentage.

1. Pathogenicity

Variant's Pathogenicity assigned in the previous case.

1. Date

Date of case creation.

1. Tag

Previously assigned Variant tag.

1. Zygosity

Variant zygosity in the proband and other case samples. Bold indicates an affected individual.

1. Link icon

Available for cases from your organization. Upon clicking, the Cases tab, filtered by the respective Case ID, will open in a new browser tab. Here you can check the Case details.

1. Letter icon

Want to get in touch with a collaborator from your network? Simply click the letter icon, and their email address will be copied to your clipboard.