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Statements

ClinVar-GKS statements are profiles of the GA4GH VA-Spec Statement type. They exist at three levels of aggregation, each carrying a ClinvarProposition that defines what is being asserted.

The ClinvarStatement union type encompasses all three:

Level Profile Bundle Section Description
Submission ClinvarScvStatement scv A single submitter's classification
Variant aggregate ClinvarVcvStatement vcv Aggregate across all submissions for a variant + proposition type
Condition aggregate ClinvarRcvStatement rcv Aggregate scoped to a specific variant + condition pair

SCV Statements

Each SCV represents one submitter's assertion about a variant-condition relationship. SCV statements carry:

  • Classification — the submitter's classification (e.g., Pathogenic, Likely benign, Tier I - Strong)
  • Direction — whether the evidence supports, disputes, or is neutral toward the proposition
  • Strength — the strength of the assessment (e.g., definitive, likely)
  • Contributions — submitter identity and dates (submitted, created, evaluated) with #/submitter/ references
  • Method — the classification guideline used (e.g., ACMG Guidelines 2015, AMP/ASCO/CAP Guidelines 2017)

SCV Extensions

Extension Description
clinvarScvId SCV accession without version (e.g., SCV001571657)
clinvarScvVersion Version number
clinvarScvReviewStatus Review status (e.g., criteria provided, single submitter)
submissionLevel Aggregation tier: PG, EP, CP, NOCP, NOCL, or FLAG
submittedScvLocalKey Submitter's internal identifier
submittedScvClassification Original classification before normalization (when different)
submittedCondition Submitter's original condition for single-condition submissions
submittedConditionSet Submitter's original conditions for multi-condition submissions

The submittedCondition and submittedConditionSet extensions carry a SubmittedConditionMapping that traces how the submitter's original condition was mapped to the ClinVar canonical condition.


VCV and RCV Statements

Aggregate statements group SCV submissions into a hierarchical evidence structure. Both VCV and RCV follow the same three-layer pattern:

  1. Classification layer — groups SCVs by classification label (e.g., all "Pathogenic" submissions)
  2. Priority layer — groups by review status tier (practice guideline > expert panel > criteria provided > no criteria provided)
  3. Aggregate contribution layer — references individual SCV submissions as evidence items

Each layer is connected via hasEvidenceLines — an array of #/evidenceLine/ JSON pointer references to evidence line records stored in the evidenceLine bundle section. Sub-statements carry the same proposition type as the parent but are scoped to a specific tier or classification group.

Aggregate Extensions

Extension Description
clinvarReviewStatus The highest review status among contributing submissions

VCV vs RCV

  • VCV statements aggregate across all conditions for a variant — the objectCondition on the proposition may reference multiple conditions or a condition set
  • RCV statements are scoped to a single ClinVar RCV accession (one variant + one condition combination)