Skip to content

Evidence Lines

Evidence lines in ClinVar-GKS are stored in the evidenceLine bundle section and referenced from statements via hasEvidenceLines arrays of #/evidenceLine/ JSON pointer strings. There are three underlying dict tables that are merged into the single bundle section: gks_dict_evidence_line (SCV), gks_dict_vcv_evidence_line (VCV), and gks_dict_rcv_evidence_line (RCV).

SCV evidence lines appear only on somatic clinical impact (SCI) statements, linking the parent VariantClinicalSignificanceProposition to a specific clinical assertion type — therapeutic response, diagnostic, or prognostic. VCV and RCV evidence lines connect aggregate statements to their contributing and non-contributing evidence items at each aggregation layer.

The ClinvarSomaticEvidenceLine profiles the VA-Spec EvidenceLine with additional properties for the target proposition and evidence outcome.


When Evidence Lines Appear

Statement Category Has Evidence Lines?
Germline classification (PATH, RF, PROT, etc.) No
Oncogenicity (ONCO) No
Somatic clinical impact (SCI) — Tier I or II Yes
Somatic clinical impact (SCI) — Tier III or IV No (no clinical assertion type)

Evidence lines are present only on Tier I and Tier II SCI statements, where ClinVar requires at least one clinical assertion type (therapeutic response, diagnostic, or prognostic) to support the tier classification.


Target Propositions

Each evidence line carries a proposition specifying the clinical assertion type. These are GA4GH VA-Spec standard types:

Code Type Predicates Description
TR VariantTherapeuticResponseProposition predictsSensitivityTo, predictsResistanceTo Response to a specific therapy
DIAG VariantDiagnosticProposition isDiagnosticInclusionCriterionFor, isDiagnosticExclusionCriterionFor Diagnostic relevance
PROG VariantPrognosticProposition associatedWithBetterOutcomeFor, associatedWithWorseOutcomeFor Prognostic significance

Evidence Outcome

The evidenceOutcome field maps the AMP/ASCO/CAP tier to an evidence level:

Tier Evidence Outcome
Tier I - Strong Level A/B
Tier II - Potential Level C/D

Relationship to Parent Statement

An SCI statement's structure connects the tiers to the clinical assertions:

SCV Statement
├── proposition: VariantClinicalSignificanceProposition (isClinicallySignificantFor)
├── classification: "Tier I - Strong"
└── hasEvidenceLines:
    └── ClinvarSomaticEvidenceLine
        ├── proposition: VariantTherapeuticResponseProposition (predictsSensitivityTo)
        ├── evidenceOutcome: "Level A/B"
        └── directionOfEvidenceProvided: "supports"

The parent statement asserts clinical significance (the tier), while the evidence line specifies what kind of clinical significance — which therapy, diagnostic criterion, or prognostic outcome the variant is relevant for.


Extensions

Somatic evidence lines also carry submittedCondition or submittedConditionSet extensions providing the submitter's original condition details. See SubmittedConditionMapping for the mapping structure.