MII-Initiative

MII IG Modul Molekulargenetischer Befundbericht v2026

ClinVar Evidence Level Example Codes


CodeSystem

ClinVar enthält Beispiele für Konzepte der Evidenzstufe, die nicht mit der klinischen Bedeutung verwechselt werden. Diese können auf ClinVar https://www.ncbi.nlm.nih.gov/clinvar/docs/review_status/ gefunden werden.

Canonical: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs


Das CodeSystem ClinVar Evidence Level Example Codes stammt aus HL7 Genomics Reporting Implementation Guide.


Concepts

This code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs defines the following codes:

CodeDisplayDefinition
4-star4 starSupported by practice guideline
3-star3 starSupported by expert panel review
2-star2 starSupported by submission by multiple-submitters with documentation of criteria for assertion
1-star1 starSingle submitter providing interpretation and documentation of criteria for assertion
no-starno starsubmitted, no evidence


{
"resourceType": "CodeSystem",
"id": "clinvar-evidence-level-custom-cs",
"text": {
"status": "generated",
--- We have skipped the narrative for better readability of the resource ---
},
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
"valueCode": "cg"
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs",
"version": "3.0.0",
"name": "ClinVarEvidenceLevelCustomCS",
"title": "ClinVar Evidence Level Example Codes",
"status": "active",
"experimental": true,
"date": "2024-12-12T20:43:36+00:00",
"publisher": "HL7 International / Clinical Genomics",
"contact": [
{
"name": "HL7 International / Clinical Genomics",
"telecom": [
{
"system": "url",
"value": "http://www.hl7.org/Special/committees/clingenomics"
},
{
"system": "email",
"value": "cg@lists.HL7.org"
}
]
}
],
"description": "ClinVar contains examples of evidence level concepts that are not conflated with clinical significance. These can be found on ClinVar https://www.ncbi.nlm.nih.gov/clinvar/docs/review_status/ . These examples are informational only, for copyright information contact the relevant source.",
{
"coding": [
{
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code": "001",
"display": "World"
}
]
}
],
"caseSensitive": true,
"content": "complete",
"count": 5,
"concept": [
{
"code": "4-star",
"display": "4 star",
"definition": "Supported by practice guideline"
},
{
"code": "3-star",
"display": "3 star",
"definition": "Supported by expert panel review"
},
{
"code": "2-star",
"display": "2 star",
"definition": "Supported by submission by multiple-submitters with documentation of criteria for assertion"
},
{
"code": "1-star",
"display": "1 star",
"definition": "Single submitter providing interpretation and documentation of criteria for assertion"
},
{
"code": "no-star",
"display": "no star",
"definition": "submitted, no evidence"
}
]
}