Related Cases section
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Last updated
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The Related Cases section highlights variants that appear in previously analyzed cases, both within your organization and among organizations in your .
Note: data is automatically lifted over between genome references on the fly.
Simple mode allows you to show or hide Network data altogether.
Advanced mode gives you the flexibility to select specific networks to display.
Green - Benign,
Blue - Likely Benign,
Light grey - VUS,
Orange - Likely Pathogenic,
Red - Pathogenic,
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.
Variant and case specifics are available with a single click on the corresponding row of the table (31.0+):
Proband ID,
proband phenotypes,
proband age,
proband sex,
maternal and paternal ethnicity,
case type.
Collaborator (32.0+)
Case status icon (32.0+)
Lock icon(32.0+)
Case ID (32.0+) or Case name (before 32.0)
Variant Details (2.29+, CNV variants)
Displays variant coordinates in GRCh37 and GRCh38 genome references, along with the CNV length.
Overlap (2.29+, CNV variants)
Pathogenicity
Date
Date of case creation.
Tag
Zygosity (30.0+) or Variant Inheritance (before 30.0)
Link icon (32.0+)
Letter icon (32.0+)
The filter allows to manually adjust the lower limit of one-way annotation between the current CNV and CNVs that have been reported earlier by using a slider.
,
,
,
The organization from which the case originates. Either your organization or the collaborating organization that is part of your .
The lock icon is displayed for cases that have of .
Displays the and the reference genome used.
CNV percentage.
Variant's assigned in the previous case.
Previously assigned .
Variant in the proband and other case samples. Bold indicates an affected individual.
Available for cases from your organization. Upon clicking, the , filtered by the respective Case ID, will open in a new browser tab. Here you can check the .
Want to get in touch with a collaborator from your ? Simply click the letter icon, and their email address will be copied to your clipboard.