Evidence section
1) A Pathogenicity box
where you and other users in your group can manually assign variant pathogenicity by selecting an option from the dropdown (Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign).
If the variant is already in your Curate database, the previously selected pathogenicity will be marked with a Curate logo.
2) Variant Interpretation notes
that include basic variant details added by the AI Shortlist algorithm.
The notes can be manually edited (Edit text link). In editing mode, Paste icon becomes available. You can select actions from the dropdown menu, including:
Import data from Curate:
Gene - import Interpretation from Curate Genes)
Variant - import Interpretation from Curate Variants
Choose from related cases - connect summary notes available for the variant if it was classified in one of your organization's previous cases.
Choose from template - generate variant interpretation using the Variant interpretation template.
3) A See evidence button
under the Evidence box links to the Evidence page where you can assess more extensive evidence and generate an evidence graph for the variant under review.
to review and modify the automatically assigned sequence variant pathogenicity class. 23 out of 28 ACMG criteria are automated; the other five should be checked manually. On 32.0+. the software additionally calculates the variant score based on a points-based system recommended by the ACMG.
to review and modify the automatically assigned genomic variant pathogenicity class. Mostly automated.
5) Sanger Confirmation toggle button
to indicate if the variant should or has been submitted for validation through Sanger sequencing.
Note: Keep in mind that the Evidence section is active only for variants that have been automatically or manually tagged. To enable the Evidence section, you need to assign any tag to the variant under consideration.
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