Finding categories
Filter findings using the category tabs at the top:| Category | Description |
|---|---|
| All | View all findings regardless of category |
| Primary | Variant most likely explains the patient’s phenotype |
| Causal | Confirmed to cause the patient’s condition |
| Secondary | Related but not the primary cause |
| Incidental | Clinically significant variant unrelated to the case phenotype |
Finding cards
Each finding displays as a card with the following information:- Gene symbol — The gene where the variant occurs
- Genomic position — Chromosome and coordinate (e.g., “chr17:43,091,578”)
- Pathogenicity badge — Color-coded classification (Pathogenic, Likely Pathogenic, VUS, etc.)
- HGVS notation — Standardized variant description
- Zygosity — Heterozygous or Homozygous
- Consequence type — Predicted functional impact (missense, frameshift, splice site, etc.)
- Reviewer — Who marked this finding
- Details — Opens the variant detail panel for comprehensive information
- Edit Notes — Add or modify clinical notes for the finding
Marking a finding
To mark a variant as a finding:- Open the Variants tab and locate the variant
- Click on the variant to open the detail panel
- Use the marking controls to designate it as a finding and select a category
Exporting findings
Click the Export button at the top of the Findings tab to download your curated findings. The export includes all finding metadata for use in clinical reports or external documentation.Findings can be included in clinical reports generated from the chat interface.