Clinical Variant Interpretation
for Diagnostic Labs
Turn variant interpretation from hours into minutes with guideline-aware classification grounded in ACMG/AMP, CanVIG, ACGS, and ClinGen, with AI assistance where it matters and clinical control at every step.
The Challenge
The Problem for Clinical Diagnostic Labs
Genomic sequencing has become fast and cheap. Interpretation has not. A single patient's exome can surface thousands of variants. Manually sorting through them to find the one causing a disease is labor-intensive, prone to human error, and inconsistent across labs. Teams spend hours cross-referencing scattered databases, applying complex guidelines, and documenting their reasoning, often using fragmented tools and spreadsheets that make reproducibility difficult and audit trails incomplete.
How Pan.bio Helps
The capabilities behind the difference
VAIC, Pan.bio's Variant Interpretation and Classification engine, centralizes and automates the interpretation workflow while keeping clinicians in control:
Guideline-aware classification
VAIC codifies ACMG/AMP, CanVIG-UK, ACGS rare diseases, ClinGen ENIGMA, and gene-specific guidelines (BRCA1, BRCA2, TP53, ATM, APC, MMR genes) into structured, reproducible classification logic.
Evidence aggregation from trusted sources
ClinVar, gnomAD (v4.1), in-silico predictors (BayesDel, REVEL, SpliceAI), ClinGen ENIGMA functional studies, OMIM, and AI-powered PubMed literature search, all in one view.
AI assistance for the hard cases
For non-automatable evidence criteria, the VAIC Agent guides clinicians through how each criterion applies, suggests scores with rationale, and provides links to relevant calculators.
Transparent, not black-box
Every classification shows every evidence criterion applied, its strength level, and its point contribution. No mystery.
Clinician stays in control
The AI assists; it never overrides. Final classification decisions always rest with the clinical user.
Full audit trail
Every classification, every evidence toggle, every modification is logged with user ID, timestamp, and rationale, supporting ISO 15189 and CAP accreditation.
Real Workflow Example
A clinical geneticist working on a BRCA1 variant case
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Upload VCF or enter a single variant in HGVS format
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Select the guideline framework (e.g., ClinGen ENIGMA BRCA1/BRCA2)
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VAIC automatically applies fully automatable criteria (population frequency, computational predictions, null variant analysis)
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For non-automatable criteria, the VAIC Agent explains how each applies and suggests scores with rationale
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Ask the VAIC Research Agent: "What does the literature say about this variant?", get structured supporting, contradicting, and inconclusive evidence with citations
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Toggle evidence on or off, add free-text notes, upload supporting files, classification updates in real time
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Finalize and sign off; full audit trail captured
What You Gain
Real outcomes, not just features
Tangible results from teams that moved their genomic work onto Pan.bio.
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Speed without sacrificing rigor.
Reduce variant interpretation time from hours to minutes for common cases, with full evidence transparency.
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Consistency across the lab.
The same variant classified the same way by different clinicians, grounded in the same guidelines.
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Audit-ready documentation.
Every decision logged and traceable for regulatory reviews.
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Human-in-the-loop by design.
AI assists; clinicians decide.
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Institutional memory.
Variant classifications and evidences are saved in your institution's backlog. If the same variant is submitted again by a different user, alerts trigger for consistency.
Enforced at the infrastructure level, your data stays in your jurisdiction, always.
Ready to Modernize Clinical Variant Interpretation?
VAIC gives your lab AI-assisted variant interpretation grounded in established clinical guidelines. Audit-ready, clinician-controlled.
No credit card required · Start in minutes