CtrlK
BlogDocsLog inGet started
Tessl Logo

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

88%

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.

A highly actionable, well-sequenced classification workflow: executable tool calls with parameters, explicit numeric thresholds, an upfront validation phase, and error-handling branches. The two weaknesses are minor conceptual padding in the 'ACMG Reasoning' passages and zero progressive disclosure — everything, including a large tool API table, lives in one file.

Suggestions

Move the Tool Parameter Reference table and per-phase criterion details (e.g., the full PS1–BP7 application rules) into references/ files (e.g., references/tools.md, references/criteria.md) and link them one level deep from SKILL.md, keeping the phases and classification algorithm inline as the overview.

Trim passages that restate knowledge Claude already has — the strength hierarchy in 'ACMG Reasoning' and the 'The reasoning is:' derivations in Phases 2 and 3 — keeping only the applied thresholds and the two common-error calibrations.

Consider moving the four worked Common Patterns into a references/patterns.md example file so the main workflow stays lean while copy-paste-ready exemplars remain one link away.

DimensionReasoningScore

Conciseness

The body is dense with operational knowledge Claude does not reliably have — ClinGen thresholds ("PP1_Strong at >= 7 informative meioses", "pLI >= 0.9 or LOEUF < 0.35", "REVEL >= 0.7 alone"), tool quirks ("ClinVar response ... list OR {status, data}", "first hit may not match"), and hardcoded IDs ("CIViC ... BRAF=5, BRCA2=19"). Minor over-explanation remains: the 'ACMG Reasoning' section restates the known strength hierarchy, and phrases like "The reasoning is: concordance across multiple independent predictors provides supporting evidence" re-derive concepts Claude already knows. Not 5: those few explanatory passages could be trimmed; not 3: the padding is isolated, not pervasive.

4 / 5

Actionability

Every phase gives executable tool calls with real parameters (e.g. `VariantValidator_validate_variant(variant_description="NM_000059.4:c.5946delT", genome_build="GRCh38", select_transcripts="mane_select")`), plus a 17-row tool parameter table, numeric decision thresholds per criterion, a copy-paste output template, and four fully worked example patterns. Guidance is copy-paste ready and covers the common cases, matching the top anchor. Not 4: there are no gaps — thresholds, parameters, and expected outputs are all specified.

5 / 5

Workflow Clarity

A clearly sequenced Phase 0–6 pipeline whose first phase is an explicit validation gate ("Wrong HGVS or wrong transcript cascades errors through every downstream criterion. Validate first."), with cross-checking (MANE transcript verified against Tark). Error-recovery branches are present throughout: "If gnomAD data is unavailable, note the gap and continue", "Discordance means neither PP3 nor BP4 applies", and a short-circuit benign path (BA1 stand-alone). Not 4: checkpoints are explicit and per-phase, not merely 'mostly present'. This is a read-only classification workflow, so the destructive/batch validation cap does not apply.

5 / 5

Progressive Disclosure

No bundle files exist (no references/, scripts/, or assets/), so all content — the 17-row API reference table, per-criterion detail for all 28 criteria, the output template, and the worked patterns — is inlined in a single ~240-line SKILL.md. The structure itself is well-organized with clear headers, but content that naturally belongs in separate reference files (the tool parameter table, per-phase criterion details) is inline, which matches the anchor 'some structure but ... content that should be separate is inline'. Not 4: no material is offloaded to clearly signaled one-level-deep references; not 2: the file is not a monolithic wall — headers make it navigable.

3 / 5

Total

17

/

20

Passed

Description

92%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: concrete capabilities (all 28 criteria, 5-tier verdict with cited evidence), an explicit 'Use for' trigger clause, and a distinct clinical-genomics niche in correct third-person voice. The only minor gap is synonym coverage for natural trigger phrasings.

DimensionReasoningScore

Specificity

Lists multiple concrete actions with comprehensive coverage: "Systematic ACMG/AMP germline variant classification with all 28 criteria (PVS1, PS1-4, PM1-6, PP1-5, BA1, BS1-4, BP1-7)" and "Produces 5-tier verdict (Pathogenic / Likely Pathogenic / VUS / Likely Benign / Benign) with cited evidence per criterion". The enumerated criteria and named output tiers leave no ambiguity about what the skill does, matching the anchor's 'multiple specific concrete actions; comprehensive coverage'. Not 4: there are no minor gaps in coverage — the full criteria set and output taxonomy are enumerated.

5 / 5

Completeness

Explicitly answers both questions: what — "Systematic ACMG/AMP germline variant classification with all 28 criteria ... Produces 5-tier verdict ... with cited evidence per criterion" — and when — "Use for variant interpretation, VUS resolution, and pathogenicity assessment". This mirrors the top anchor's 'clearly and explicitly answers both what AND when with concrete trigger phrases'. Not 4: the 'when' clause is explicit and specific, not merely present-but-improvable.

5 / 5

Trigger Term Quality

Good keyword coverage with natural phrases users would say: "variant interpretation", "VUS resolution", "pathogenicity assessment", "variant classification", plus tool names (ClinVar, gnomAD). A few natural synonyms are missing — users commonly say "classify this variant", "is this mutation pathogenic", "ACMG criteria" ("mutation" as a synonym for variant is absent), so it falls just short of the 'comprehensive coverage including synonyms' anchor. Not 3: the terms present go well beyond 'some relevant keywords' and include the field's working vocabulary.

4 / 5

Distinctiveness Conflict Risk

A clear niche (ACMG/AMP germline variant classification) with distinct triggers (VUS resolution, pathogenicity assessment) unlikely to fire for unrelated skills. Voice is correctly third person ("Produces", "Combines"), so no specificity penalty applies. Minimal conflict risk, matching the 'clear niche with distinct triggers' anchor. Not 4: no plausible overlap with a closely related generic skill — the scope is a specific, named guideline framework.

5 / 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
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.