Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: ClinVar Evidence Level Example Codes - XML Representation

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="clinvar-evidence-level-custom-cs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p>This code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs 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>
  </text>
  <url
       value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs"/>
  <version value="2.0.0"/>
  <name value="ClinVarEvidenceLevelCustomCS"/>
  <title value="ClinVar Evidence Level Example Codes"/>
  <status value="active"/>
  <date value="2022-05-09T16:53:07+00:00"/>
  <publisher value="HL7 Clinical Genomics Working Group"/>
  <contact>
    <name value="HL7 Clinical Genomics Working Group"/>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/clingenomics"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="cg@lists.HL7.org"/>
    </telecom>
  </contact>
  <description
               value="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 value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <caseSensitive value="true"/>
  <content value="complete"/>
  <count value="5"/>
  <concept>
    <code value="4-star"/>
    <display value="4 star"/>
    <definition value="Supported by practice guideline"/>
  </concept>
  <concept>
    <code value="3-star"/>
    <display value="3 star"/>
    <definition value="Supported by expert panel review"/>
  </concept>
  <concept>
    <code value="2-star"/>
    <display value="2 star"/>
    <definition
                value="Supported by submission by multiple-submitters with documentation of criteria for assertion"/>
  </concept>
  <concept>
    <code value="1-star"/>
    <display value="1 star"/>
    <definition
                value="Single submitter providing interpretation and documentation of criteria for assertion"/>
  </concept>
  <concept>
    <code value="no-star"/>
    <display value="no star"/>
    <definition value="submitted, no evidence"/>
  </concept>
</CodeSystem>