Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: ClinVar Evidence Level Example Codes - JSON Representation

Active as of 2023-12-18

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{
  "resourceType" : "CodeSystem",
  "id" : "clinvar-evidence-level-custom-cs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">4-star<a name=\"clinvar-evidence-level-custom-cs-4-star\"> </a></td><td>4 star</td><td>Supported by practice guideline</td></tr><tr><td style=\"white-space:nowrap\">3-star<a name=\"clinvar-evidence-level-custom-cs-3-star\"> </a></td><td>3 star</td><td>Supported by expert panel review</td></tr><tr><td style=\"white-space:nowrap\">2-star<a name=\"clinvar-evidence-level-custom-cs-2-star\"> </a></td><td>2 star</td><td>Supported by submission by multiple-submitters with documentation of criteria for assertion</td></tr><tr><td style=\"white-space:nowrap\">1-star<a name=\"clinvar-evidence-level-custom-cs-1-star\"> </a></td><td>1 star</td><td>Single submitter providing interpretation and documentation of criteria for assertion</td></tr><tr><td style=\"white-space:nowrap\">no-star<a name=\"clinvar-evidence-level-custom-cs-no-star\"> </a></td><td>no star</td><td>submitted, no evidence</td></tr></table></div>"
  },
  "extension" : [
    {
      "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-ballot",
  "name" : "ClinVarEvidenceLevelCustomCS",
  "title" : "ClinVar Evidence Level Example Codes",
  "status" : "active",
  "experimental" : false,
  "date" : "2023-12-18T22:45:59+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.",
  "jurisdiction" : [
    {
      "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"
    }
  ]
}