Completed cases remain available after app / WSL restart; interrupted, cancelled and superseded runs are kept as audit records.
| Case | Received | Input | Status | Findings |
|---|
| Gene | Variant | Amino acid change | Zygosity | In silico | Allele frequency | Type and classification | Related disorder · OMIM · inheritance | Patient relevance |
|---|
Clinical review framework · Interpretation safeguards
Five-tier pathogenicity stays primary. Pathogenicity remains the main classification axis. The primary five-tier assertion hierarchy remains stable and auditable.
Patient relevance stays distinct. Phenotype and disease-context relevance remain visible and scannable, but they do not silently overwrite pathogenicity.
Technical evidence stays separate. Depth, genotype quality, allele balance, and alignment metrics remain auditable quality signals rather than hidden filters.
Clinician / laboratory decision remains final. Final interpretation remains with the qualified clinician or laboratory reviewer.
