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.
Supporting Evidence
Pathogenic classification with expert panel review
- •Classification: Pathogenic
- •Review status: Expert panel (4 stars)
- •Submissions: 47 from 12 laboratories
- •Last evaluated: 2024-01-15
- •No conflicting interpretations
Example based on publicly available ClinVar data. Final interpretation requires clinical judgment and institutional review.
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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