Evaluated cases
300
Key metrics and data sources for the demo report.
| Source | Status | Description |
|---|---|---|
| ClinVar | AVAILABLE | Local GRCh38 SQLite evidence store |
| GenCC | AVAILABLE | Gene-disease validity |
| HPO / MONDO / Orphanet | AVAILABLE | Phenotype and disease normalization |
| gnomAD | OPTIONAL | Population frequency is enabled per run configuration |
HG002_1000 / GRCh38 / VEP, ClinVar and gnomAD source statuses are retained in report metadata.