GA4GH Variant Annotation Specification Logo
  • Introduction
    • Overview
    • Components
    • Use Cases and Implementations
    • Scope and Development
  • Modeling Foundations
    • Core Class Hierarchy
    • Data Structures
      • Statement Structure
      • Evidence Line Structure
      • Study Result Structure
    • Role of Propositions
      • Propositions in Statements
      • Propositions in Evidence Lines
    • Profiles
      • Profiling Tasks
      • Profiling Example
  • VA Core Model
    • Entity
      • Information Entity
        • Method
        • Document
        • Data Set
        • Statement
        • Evidence Line
        • Study Result
      • Contribution
      • Agent
      • Study Group
      • Proposition
    • Element
      • Coding
      • Concept Mapping
      • Mappable Concept
      • Extension
    • Data Types
      • code
      • iriReference
      • date
      • datetime
    • Domain Entities
      • Variation
      • Condition
      • Condition Set
      • Therapeutic
      • Therapy Group
      • Gene
  • VA Profiles
    • Base Profiles
      • Proposition Profiles
        • Variant Pathogenicity Proposition
        • Variant Oncogenicity Proposition
        • Variant Clinical Significance Proposition
        • Variant Therapeutic Response Proposition
        • Variant Diagnostic Proposition
        • Variant Prognostic Proposition
        • Experimental Variant Functional Impact Proposition
      • Study Result Profiles
        • Cohort Allele Frequency Study Result
        • Experimental Variant Functional Impact Study Result
    • Community Profiles
      • ACMG 2015 Aligned Profiles
        • Variant Pathogenicity Statement (ACMG 2015)
        • Variant Pathogenicity Evidence Line (ACMG 2015)
      • CCV 2022 Aligned Profiles
        • Variant Oncogenicity Statement (CCV 2022)
        • Variant Oncogenicity Evidence Line (CCV 2022)
      • AMP/ASCO/CAP 2017 Aligned Profiles
        • Variant Clinical Significance Statement
    • JSON Schema Catalog
  • Reference Implementation
  • Developer Guide
    • Profile Definition Mechanisms
    • Authoring Base vs Community Profiles
    • Custom Profile Development
  • Examples
    • ACMG Variant Pathogenicity Statement Example
    • ACMG Variant Pathogenicity Statement Example (with Evidence)
    • Custom Variant Pathogenicity Statement Example
  • Appendices
    • How to Participate
    • Development Process
    • SEPIO Modeling Framework
    • Design Decisions
      • Definition of ‘Variant Annotation’
      • Scope of Variant Knowledge Supported
      • Explicit Statement Semantics
      • Use of Propositions
      • Domain Entity Representation
      • Profile Authoring Mechanisms
    • Implementations
    • Variant Congruence
GA4GH Variant Annotation Specification
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