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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.

72

Quality

89%

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SecuritybySnyk

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SKILL.md
Quality
Evals
Security

Quality

Content

78%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 — exact tool signatures, thresholds, an explicit phase workflow, a combination algorithm, an output template, and worked patterns — and reasonably concise for the domain. Its main weakness is structure: everything lives inline in one long file with no one-level-deep references, and tool-failure recovery loops are largely unspecified.

Suggestions

Move the 17-row Tool Parameter Reference table to references/tool-reference.md and keep a 3-4 line quick-reference (validation, frequency, ClinVar lookup) inline so SKILL.md stays an overview.

Move the four worked Common Patterns to references/patterns.md, linked one level deep from the body, reserving SKILL.md for the phase workflow and classification algorithm.

Add explicit error-recovery feedback loops for the tool chain: what to do when VariantValidator or ClinVar returns an error or conflicting transcripts, and a re-validation checkpoint after Phase 0 before any criterion is assessed.

DimensionReasoningScore

Conciseness

The body is dense and domain-specific with concrete thresholds and little concept-teaching, but a few passages could be trimmed — e.g. 'Population AF is among the strongest evidence in either direction' and the tangential ESM mechanism-complement paragraph in Phase 2. This fits 'efficient; minor instances of over-explanation' rather than the fully lean top anchor.

4 / 5

Actionability

Fully executable guidance throughout: tool calls with exact parameter names and real example values (e.g. VariantValidator_validate_variant with NM_000059.4:c.5946delT, GRCh38), concrete numeric thresholds (REVEL >= 0.7, mis_z > 3.09, pLI >= 0.9, SpliceAI >= 0.5), a complete output template, and four worked patterns using real variants. Not 4: no gaps — the common cases are covered copy-paste ready.

5 / 5

Workflow Clarity

A clear Phase 0-6 sequence with an explicit validation phase up front ('Wrong HGVS or wrong transcript cascades errors... Validate first') and a complete combination-rule algorithm, but error-recovery feedback loops are thin — only one fallback is written ('If gnomAD data is unavailable, note the gap and continue') and there is no guidance for VariantValidator/ClinVar failures or transcript conflicts. Fits 'clear sequence with most checkpoints present; minor validation gaps' rather than the feedback-loop-rich top anchor.

4 / 5

Progressive Disclosure

The body is a ~240-line monolith with clear section headers but no bundle files at all: the 17-row Tool Parameter Reference table and the four worked Common Patterns are reference-style material inlined in SKILL.md rather than split one level deep. Fits 'some structure but could be better organized; content that should be separate is inline' rather than the 'minor organization gaps' anchor above.

3 / 5

Total

16

/

20

Passed

Description

100%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.

The description is concise, specific, and complete: it names the method (ACMG/AMP, all 28 criteria), the deliverable (5-tier verdict with per-criterion citations), the data sources, and an explicit 'Use for' trigger clause. It cleanly matches the strong-example pattern from the rubric.

DimensionReasoningScore

Specificity

Enumerates concrete capabilities in third person: classification across all 28 named ACMG criteria, a 5-tier verdict with cited evidence per criterion, and the exact data sources combined (ClinVar, gnomAD, computational predictors, gene-mechanism context). No vague language and no coverage gaps, matching the top anchor rather than the 'minor gaps' anchor below it.

5 / 5

Completeness

Explicitly answers both questions: the 'what' (systematic classification with the 28 criteria, 5-tier verdict, cited evidence, named databases) and the 'when' ('Use for variant interpretation, VUS resolution, and pathogenicity assessment') with concrete trigger phrases.

5 / 5

Trigger Term Quality

'Use for variant interpretation, VUS resolution, and pathogenicity assessment' plus ACMG/AMP, VUS, ClinVar, and gnomAD are exactly the natural phrases a user needing this skill would say, including synonyms. Coverage is comprehensive for the domain, fitting the top anchor rather than 'a few natural terms missing'.

5 / 5

Distinctiveness Conflict Risk

A clear clinical-genomics niche (ACMG/AMP germline variant classification) with domain-specific triggers; no plausible overlap with generic bioinformatics or document skills, so conflict risk is minimal.

5 / 5

Total

20

/

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
Reviewed

Table of Contents

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