Documents & Announcements

Changes to Clinical Laboratories Meeting Minimum Requirements for Data Sharing to Support Quality Assurance

The following changes to minimum requirements will go into effect January 1, 2020:

  • Laboratory submissions are registered in ClinVar as ‘Single Submitter, Assertion criteria provided’ (single star) - No changes
  • A complete list of the laboratory’s test offerings are publicly available either through a registry such as Genetic Test Registry (GTR) or Orphanet or on the laboratory’s website - No changes
  • Laboratory submits at least once per year adding new variants and updating reclassified variants as necessary - No changes
  • Laboratory submits all categories of variants reported to patients (labs are also encouraged to share B/LB variants and VUS  if not reported) - No changes
  • Modified: Laboratory has attested to submitting at least 95% of all sequence and/or copy number variants reported in the past two years (June 2017 - June 2019)
    • Note: The intent of the 95% rule is to ask that labs submit all reported variants with some exceptions for those variants where there may be challenges to sharing in ClinVar. If a lab has concern over whether they meet the 95% rule and would like to discuss exceptions, please contact ClinGen at clingen@clinicalgenome.org.
  • Laboratory has submitted at least 100 variants - No changes
  • Laboratory is a CLIA certified laboratory (USA) or meets an equivalent standard in another country - No changes
  • New requirement: All pathogenic/likely pathogenic submissions reported since June 2018 have supporting evidence, defined as an evidence description containing enough information to follow how you arrived at your classification (for example, this could include a descriptive summary, and/or submitting ACMG/AMP criteria codes and PMIDs).
Date February 15, 2019
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