Completing case interpretation

To complete case interpretation, indicate the analysis outcome, choose variants to report, add supporting notes, and save the case in the Case interpretation widget.

1

Open the Case interpretation widget

On the Individual Case page, click on the Case interpretation button in the top bar.

Click Save at any time to save your progress.

2

Indicate the case result

In the left panel, select the final analysis result.

Case result	Case result category
Case is confidently solved (Positive)	Resolved
Case is likely to be solved (Positive)	Resolved
Further investigation (Uncertain)	Resolved
Case is not solved (Negative)	Not resolved

Case results are grouped into two categories that contribute to your lab’s diagnostic yield calculation, and you can filter cases in the Cases table by Resolved or Not resolved.

3

Select variants to include in the report

1. In the left panel, open the variant tag dropdown to view all tags used in the case.

2. Select a tag to view variants assigned to that tag.

   1. Single‑tag mode

      • Each variant appears under the last tag assigned to it.

      • Variants tagged by AI Shortlist appear in a Most Likely, Candidate, Most Likely GUS, Candidate GUS list unless a user applies a different tag. If a user applies a new tag, the variant appears in the corresponding user tag list instead.

   2. Multi‑tag mode

      • Each variant appears under all tags it has been assigned, not just the last one.

      • If a variant is selected under Tag A, it will also appear as selected when you filter by Tag B.

3. Select variants that you want to report by checking the checkbox next to each variant.

4. Switch to another tag if needed and repeat the selection process.

5. Adjust variant order if needed. Variant order in the final list is preserved in the report within each tag group and variant type. You can reorder variants by drag-and-drop.

Note: Each variant in the Case interpretation widget is specified at the coding DNA and protein level when applicable; otherwise, it is described at the genomic DNA level.

4

Enter your case-level notes

Add supporting information that applies to the case:

• Interpretation notes

• Gene interpretation You can import gene interpretations from Curate for any gene affected by a reported variant in the case.

• Recommendations

These notes are saved with the case and automatically populate the report.

5

Save the case interpretation

Select Save to save the case interpretation.