CtrlK
BlogDocsLog inGet started
Tessl Logo
SkillPublic

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.

73

Quality

92%

Does it follow best practices?

Run evals on this skill

Adds up to 20 points to the overall score

View guide
SecuritybySnyk

Low

Low-risk findings worth noting

The canonical home for this skill is tooluniverse-acmg-variant-classification in mims-harvard/ToolUniverse

SKILL.md
Quality
Evals
Security

Quality

Content

85%Weight 40%Scale 1-5

Reviews the quality of instructions and guidance provided to agents. Good implementation is clear, handles edge cases, and produces reliable results.

The body is highly actionable and workflow-clear: every phase has concrete tool calls, exact thresholds, validation-first sequencing, and explicit disagreement-handling guidance. Its weaknesses are localized verbosity in the InterVar/ESM narrative passages and a monolithic single-file structure with no progressive disclosure — the tool reference, criteria details, and output template are prime candidates for separate reference files.

Suggestions

Split the 'Tool Parameter Reference' table into a references/tool-reference.md file (and the output-format template into its own reference), keeping SKILL.md to the phase workflow plus the classification algorithm, so the main file stays a lean overview with one-level-deep references.

Trim the two 'verified live' InterVar anecdote paragraphs down to their operational takeaway (re-verify tool examples live; the documented BRCA1 example's coordinates encode an SNV, not the labeled frameshift) — the current narrative form spends many tokens on context Claude doesn't need at decision time.

Compress the 'Mechanism complement for VUS-resolution narratives' paragraph to a short bullet: when a mechanistic explanation is needed for a missense VUS, call ESM_explain_variant_mechanism (requires ESM_API_KEY) to convert PP3 into an explained criterion — the extended before/after example can be cut.

DimensionReasoningScore

Conciseness

The bulk is dense operational content that earns its tokens — a tool parameter table, exact thresholds ('REVEL >= 0.7', 'mis_z > 3.09', 'pLI >= 0.9 or LOEUF < 0.35'), and the full classification combination rules. However, the InterVar section carries two long anecdotal prose paragraphs ('Cross-validation example, verified live', 'Known data-quality issue, verified live, not a guess') and the ESM 'Mechanism complement' paragraph is narrative-heavy — minor instances of over-explanation that could be trimmed, matching the 4 anchor rather than 5's 'every token earns its place'.

4 / 5

Actionability

Fully executable guidance throughout: concrete tool calls with named parameters in every phase, precise numeric thresholds for each criterion, a copy-paste output-format template, and four worked patterns showing phase order and expected verdicts. This matches the 5 anchor (copy-paste ready commands, specific examples covering the common cases); the few '...' placeholders are input-dependent values, not pseudocode, so it is not 3 or 4.

5 / 5

Workflow Clarity

Phases 0–6 are clearly sequenced with validation checkpoints and feedback loops: Phase 0 validates HGVS/transcript explicitly ('Wrong HGVS or wrong transcript cascades errors through every downstream criterion. Validate first.'), Phase 1 handles missing data ('note the gap and continue'), Phase 2 defines discordance handling, and the InterVar cross-check section prescribes what to do on disagreement ('treat it as a reason to re-examine your manual criteria'). This matches the 5 anchor's explicit validation plus error-recovery loops.

5 / 5

Progressive Disclosure

No bundle files exist (no references/, scripts/, or assets/), so the entire skill is one ~230-line monolith: the tool parameter reference, full 28-criteria guidance, classification algorithm, and output template are all inlined. Section headers give it reasonable structure, but content that clearly belongs in one-level-deep reference files is inline and there are no references at all — matching the 3 anchor ('content that should be separate is inline') rather than 4, since 4 assumes references exist and are mostly clear.

3 / 5

Total

17

/

20

Passed

Description

96%Weight 40%Scale 1-5

Based on the skill's description, can an agent find and select it at the right time? Clear, specific descriptions lead to better discovery.

A strong description: it states concrete capabilities, output format, and data sources in third-person voice, with an explicit 'Use for' trigger clause covering natural user phrasings. The only weakness is that two of its broader trigger phrases could also invoke a closely related general variant-analysis skill.

DimensionReasoningScore

Specificity

The description lists multiple concrete actions — 'Systematic ACMG/AMP germline variant classification with all 28 criteria', 'Produces 5-tier verdict (Pathogenic / Likely Pathogenic / VUS / Likely Benign / Benign) with cited evidence per criterion', 'Combines ClinVar, gnomAD, computational predictors, and gene-mechanism context' — with no meaningful gaps in coverage. It matches the 5 anchor (multiple specific concrete actions, comprehensive) rather than 4, which would require minor coverage gaps that are not present.

5 / 5

Completeness

It explicitly answers both questions: the 'what' (systematic classification producing a 5-tier verdict with per-criterion cited evidence, naming the data sources) and an explicit 'Use for variant interpretation, VUS resolution, and pathogenicity assessment' trigger clause. This is a direct match for the 5 anchor's example structure, so it cannot be 4 ('when' could be more explicit) — the when-clause names three concrete use scenarios.

5 / 5

Trigger Term Quality

Natural trigger phrases are comprehensively covered: 'variant interpretation', 'VUS resolution', 'pathogenicity assessment', 'germline variant classification', plus the vocabulary users actually invoke (ACMG/AMP, ClinVar, gnomAD, criteria codes). This matches the 5 anchor's synonym-level coverage; a 4 would require missing natural terms, and none of the common phrasings are absent.

5 / 5

Distinctiveness Conflict Risk

The ACMG/AMP 28-criteria framing, 5-tier verdict, and criteria codes form a clear niche with distinct triggers, but 'variant interpretation' and 'pathogenicity assessment' are broad enough that a general variant-analysis sibling skill (the body itself references 'tooluniverse-variant-analysis') would also match them — minor overlap risk with a closely related skill, matching the 4 anchor rather than 5's 'minimal conflict risk'.

4 / 5

Total

19

/

20

Passed

Validation

100%

Checks the skill against the spec for correct structure and formatting. All validation checks must pass before discovery and implementation can be scored.

Validation — 16 / 16 Passed

Validation for skill structure

No warnings or errors.

Repository

mims-harvard/ToolUniverse

Path

plugins/tooluniverse/skills/tooluniverse-acmg-variant-classification/SKILL.md

Reviewed

Table of Contents

Is this your skill?

If you maintain this skill, you can claim it as your own. Once claimed, you can manage eval scenarios, bundle related skills, attach documentation or rules, and ensure cross-agent compatibility.