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Interactive Demo

Explore Evidence
Synthesis

This interactive demonstration shows how GeneGenius synthesizes evidence from multiple authoritative sources to support clinical variant interpretation.

Evidence Trail Explorer

Demo

See how GeneGenius synthesizes evidence to support clinical interpretation. Click to explore each evidence source.

Variant
BRCA2 c.5946delT
NM_000059.4
Classification
Pathogenic
Condition
Hereditary breast and ovarian cancer syndrome

Interpretation Summary

This frameshift variant creates a premature stop codon, resulting in loss of function. Multiple independent submissions to ClinVar classify this variant as pathogenic with high confidence. The variant meets ACMG criteria for pathogenic classification.

Evidence Sources (4)

  • •Classification: Pathogenic
  • •Review status: Expert panel (4 stars)
  • •Submissions: 47 from 12 laboratories
  • •Last evaluated: 2024-01-15
  • •No conflicting interpretations
View source: ClinVar

This is a simplified demonstration of GeneGenius evidence synthesis. Actual clinical reports include comprehensive evidence trails, full citations, and detailed audit logs. Final diagnostic and treatment decisions remain with qualified clinicians.

What you're seeing

  • 1Evidence from authoritative sources including ClinVar, ACMG/AMP guidelines, peer-reviewed literature, and functional studies.
  • 2Transparent reasoning showing exactly which criteria were applied and why each evidence source supports the interpretation.
  • 3Full citations allowing clinicians to verify every claim against primary sources.
  • 4Audit trail documenting every decision point for institutional review and compliance.

This is a demonstration using publicly available ClinVar data.

GeneGenius is a clinical decision support platform. Final diagnostic and treatment decisions always remain with qualified clinicians. This demo illustrates evidence synthesis methodology, not diagnostic capability.

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