BigHugger
sk Skill · mims-harvard

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…

installs 8w
0
30-day movement
starts with the next reading
Related entries
1
Connections
0
pythonmarkdownPython
Host repository
mims-harvard/ToolUniverse
Host stars
1,688
Host language
Python