Medical & Healthcare
Tooluniverse ACMG Variant Classification
Systematic ACMG/AMP germline variant classification with all 28 criteria (PVS1, PS1-4, PM1-6, PP1-5, BA1, BS1-4, BP1-7) for clinical significance. Produces 5-tier verdict (Pathogenic / Likely Pathogenic / VUS / Likely Benign / Benign) with cited evidence per criterion. Use for variant interpretation, VUS resolution, and pathogenicity assessment. Combines ClinVar, gnomAD, computational predictors, and gene-mechanism context.
- Publisher / source
- mims-harvard/ToolUniverse (found on GitHub top repositories)
- Upstream record
- mims-harvard/ToolUniverse
- Version
- Version 1
- Published
- Publication review
- Approved for publication · recorded passed scan 2026-11-10
- Content fingerprint
7b4921e7ef07ba2627e46a427726cf869836e7576b3d3258410ddecbc96aa148