tooluniverse-acmg-variant-classification

tooluniverse-acmg-variant-classification is a skill for Claude Code from mims-harvard/ToolUniverse. It costs 127 tokens per session (4,107 once invoked), scanned A, original, Apache-2.0.

A guide for classifying inherited genetic variants using ACMG/AMP criteria, a standard framework for judging whether a variant may cause disease.

In plain words
What is it for?
It helps interpret variants, assess evidence criteria, resolve uncertain findings, assign one of five classifications, and document sources for review.
Why use it?
It organizes evidence consistently and reduces errors such as relying on one prediction or one database label without checking the full evidence combination.

Skill for Claude Code

Written for Claude Code: disable-model-invocation in frontmatter.

Part of the tooluniverse plugin — 140 skills, 8 commands, 1 agent, 1 hook, 1 MCP server shipped together

Good fit It helps interpret variants, assess evidence criteria, resolve uncertain findings, assign one of five classifications, and document sources for review.

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Install with agentmods
npx agentmods add skills/mims-harvard/tooluniverse/tooluniverse-acmg-variant-classification
About the project

ToolUniverse is a collection of tools, interfaces, and supporting components for building AI systems that perform scientific work. It is for developers creating AI scientist agents that use APIs, databases, machine-learning tools, and domain-specific utilities. The catalogue includes skills, commands, an MCP server, an agent, and a hook for working with the ecosystem.

mims-harvard/ToolUniverse · 1,680 stars · on GitHub · aiscientist.tools

Install

Getting it into your agent

One page per mod, every tool's command on it. A separate URL per tool would split the same page into five that compete with each other.

Any agent
npx skills add mims-harvard/ToolUniverse --skill tooluniverse-acmg-variant-classification
Clone the repo
git clone --depth 1 https://github.com/mims-harvard/ToolUniverse

Made for: Claude Code.

Or install tooluniverse, the plugin that ships this one along with the rest of its 140 skills, 8 commands, 1 agent, 1 hook, 1 MCP server.

Wrote this? Show the measurements

A badge with what this costs and how it scanned, read live from this page, so it follows the numbers instead of freezing them. Markdown for a README, HTML for a documentation site or a project page.

agentmods badge for tooluniverse-acmg-variant-classification

README.md
[![agentmods](https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-acmg-variant-classification/github.svg)](https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-acmg-variant-classification)
Your own site
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-acmg-variant-classification"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-acmg-variant-classification/github.svg" alt="Measured on agentmods" height="20"></a>

Or the 80×15 button, for a site that already has a row of RSS and ATOM ones. Only the verdict fits; the numbers stay here.

agentmods 80×15 button for tooluniverse-acmg-variant-classification

Your own site · 80×15
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-acmg-variant-classification"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-acmg-variant-classification.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 127 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 4,107 The whole file, excluding the scripts and references it only reads on demand.
Security scan A 0 findings. A grade says what 26 rules found in the file — not that it is safe. Third-party audits
  • NVIDIA SkillSpector pass 7 Sept 2026
How audits are shown
Origin original No closer match found in the catalogue.
Token cost

What it costs to keep this loaded

Counted locally with the o200k_base tokenizer, which is exact for GPT models; Claude uses its own tokenizer and its counts differ. Treat this as one consistent yardstick across the catalogue rather than a bill. Prices are per million input tokens.

ModelPer sessionOnce invoked
Fable 5.1 $0.00127 $0.04107
Opus 5 $0.00063 $0.02054
Sonnet 5 $0.00025 $0.00821
Haiku 4.5 $0.00013 $0.00411

Measured 11d ago against content hash c2dfba517147, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-11, from the pricing page.

Security

Grade A, and why

tooluniverse-acmg-variant-classification scanned grade A with 0 findings against 26 rules in 11 categories — prompt injection, anti-refusal, data exfiltration, privilege escalation, supply chain, agent snooping, system-prompt leakage, SSRF and excessive agency — measured 11d ago.

A static scan of the body, not an audit. Every finding is printed with the line that produced it so you can judge whether it matters here. A mod is markdown that instructs an agent; that is exactly why what it instructs is worth reading.

Nothing flagged

None of the 26 patterns this scan looks for appear in this file: no shell pipes, no recursive deletes, no credential paths, no hidden text, no instruction-override or anti-refusal phrasing, no agent-config snooping. That is not a guarantee, it is the absence of the things that are checkable.

plugin/skills/tooluniverse-acmg-variant-classification/SKILL.md · 244 lines

How it starts

The opening of the file, as written. The whole thing — 244 lines — stays where its author put it; the contents beside it link to each section on GitHub.

ACMG/AMP Variant Classification

ACMG Reasoning

Each criterion (PS, PM, PP for pathogenic; BS, BP for benign) contributes a weighted piece of evidence for or against pathogenicity. The classification is the COMBINATION of all activated criteria, not any single criterion. Do not overweight a single finding.

The hierarchy is: PVS1 (very strong) > PS (strong) > PM (moderate) > PP (supporting). On the benign side: BA1 (stand-alone) > BS (strong) > BP (supporting). A frameshift in a LOF-intolerant gene (PVS1) plus a ClinVar expert-panel pathogenic entry (PS1) is pathogenic. A single PP criterion alone is not. The combination rule is what matters.

Two common errors to avoid: (1) seeing a "Pathogenic" ClinVar entry and stopping — that is PP5 (supporting) unless it has expert-panel review, not automatic confirmation; (2) dismissing a variant because one predictor says "tolerated" — discordant predictors mean neither PP3 nor BP4 applies, which is neutral evidence, not benign evidence.

Always apply criteria conservatively. When evidence is ambiguous, leave the criterion unmet. Cite the source for every criterion you activate so clinicians can audit the reasoning.

KEY PRINCIPLES:

  1. Criteria-driven — cite which criteria were activated and why
  2. Conservative — do not upgrade a criterion when evidence is ambiguous
  3. Gene-aware — adjust thresholds based on gene mechanism (LOF vs. gain-of-function)
  4. Population-calibrated — use ancestry-specific gnomAD frequencies, not just global AF
  5. Transparent — show evidence for each criterion
  6. Source-referenced — every criterion activation must cite the database/tool source
  7. English-first queries — always use English terms in tool calls; respond in user's language

LOOK UP, DON'T GUESS

When uncertain about any scientific fact, SEARCH databases first (PubMed, UniProt, ChEMBL, ClinVar, etc.) rather than reasoning from memory. A database-verified answer is always more reliable than a guess.

Read the full file on GitHub · 244 lines

Changes

What this file has done since we first saw it

Hashed on every crawl. A supply-chain change to an agent config is a question of when, not whether, so the history is kept rather than the latest state alone.

  1. 11d ago First seen · 244 lines · 127 tokens per session scan A c2dfba517147

Subscribe to this mod's changes

tooluniverse-acmg-variant-classification is a skill published in the GitHub repository mims-harvard/ToolUniverse (1,680 stars, last pushed yesterday), licensed Apache-2.0. It adds 127 tokens to every session and 4,107 once invoked, about $0.0006 per session on Opus 5. A static security scan graded it A with 0 findings. No closer match exists in the catalogue, so it is treated as the original; first seen 2026-08-30.

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