Related Cases section

The Related Cases section 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 section features:

Network data View mode switch (32.0+);

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 (31.0+):

• 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 (32.0+)

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

1. Case status icon (32.0+)

1. Lock icon(32.0+)

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

1. Case ID (32.0+) or Case name (before 32.0)

Displays the Case ID and the reference genome used.

1. Variant Details (2.29+, CNV variants)

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

1. Overlap (2.29+, 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 (30.0+) or Variant Inheritance (before 30.0)

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

1. Link icon (32.0+)

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 (32.0+)

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.