VarSeq Suite: Clinical Interpretation

Clinical Variant Classification & Interpretation

VSClinical automates evidence assembly and applies ACMG/AMP guidelines to classify germline and somatic variants with consistency. Move from filtered candidates to defensible clinical decisions.

ISO 13485 Certified QMS
CE Marked (IVDR)

Guideline-Driven Variant Classification Software

VSClinical implements all 28 ACMG criteria for germline classification and AMP tier evidence levels for somatic interpretation, reducing subjectivity and accelerating clinical decisions.

ACMG Auto-Classifier

Automatically evaluates each variant against all applicable ACMG criteria with scored recommendations and supporting evidence. The auto-classifier surfaces pathogenic variants and quickly identifies benign calls to accelerate throughput.

Evidence Assembly

Aggregates population frequencies from gnomAD, ClinVar submissions at the codon level, functional predictions from SIFT and PolyPhen2, conservation scores, and mutational hotspot analysis into a single structured view.

Clinical Reporting

Facts and evidence statements collected during classification flow directly into customizable Word-based report templates. Generate DOCX or PDF reports with sign-off workflows for clinical delivery.

The ACMG Classification Workflow

VSClinical's guided workflow walks clinicians through evidence evaluation for each variant, documenting every decision for a defensible audit trail.

5
Steps from candidate to classified variant
1

Population Frequency Screen

Automatically check gnomAD and 1000 Genomes frequencies by sub-population. Variants exceeding benign allele frequency thresholds (BA1, BS1) are flagged immediately, clearing the majority of candidates without manual review.

2

Automated Criteria Scoring

The auto-classifier evaluates each variant against all 28 ACMG criteria — scoring pathogenic (PVS1 through PP5) and benign (BA1 through BP7) evidence with supporting data displayed for every recommendation.

3

Evidence Review & Override

Review ClinVar submissions, mutational hotspot neighbors, functional predictions, conservation scores, and literature citations. Accept, reject, or upgrade/downgrade individual criteria with documented rationale.

4

Five-Tier Classification

The scoring engine applies ACMG combining rules to assign Pathogenic, Likely Pathogenic, VUS, Likely Benign, or Benign classification. Real-time probability updates reflect each scored criterion.

5

Report Generation

Evidence statements collected during classification auto-populate customizable clinical report templates. Finalize and render to DOCX or PDF with integrated sign-off workflow.

Built for Both Germline & Somatic

VSClinical provides distinct guided workflows for germline (ACMG) and somatic (AMP) variant classification, covering the full spectrum of clinical genomic testing in one platform.

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Institutional Knowledge

Every classification decision is stored in your lab's variant knowledgebase. When the same variant appears in a future sample, prior assessments and evidence are surfaced automatically, reducing rework as your lab scales.

"VSClinical's auto-classifier reduces annotation complexity, removes benign variants, and highlights pathogenic variants — providing a guided workflow that reduces subjectivity across lab personnel."

Classification Capabilities

28 ACMG Criteria

All 16 pathogenic and 12 benign criteria evaluated automatically with supporting evidence for each recommendation.

AMP Tier Classification

Somatic variants classified into Tiers I–IV based on Level A–D therapeutic, diagnostic, and prognostic evidence from Golden Helix CancerKB, CIViC, and DrugBank.

CNV & Fusion Support

Classify copy number variants using ACMG/ClinGen CNV guidelines and gene fusions using AMP somatic workflows — all within the same interface.

Clinical Trial Matching

For somatic cases, search NCI-funded trials by biomarker, tumor type, geographic location, and recruitment status directly from the classification workflow.

See the ACMG Workflow in Action

Request a personalized evaluation with your own variant data.

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Classification Insights & Webcasts

Deep dives into ACMG/AMP classification workflows, evidence assembly strategies, and clinical reporting best practices.

Ready to Standardize Your Classification Workflow?

Join clinical laboratories worldwide using VSClinical for ACMG/AMP-guided variant classification and reporting.

Predictable Pricing
Data Sovereignty
ISO 13485-Certified QMS