Sequence Variant Inter-Laboratory Discrepancy Resolution

The Sequence Variant Inter-Laboratory Discrepancy Resolution Task Team aims to resolve variants with interpretation differences in ClinVar through the following process:

  • Compare labs  interpretation previously submitted to ClinVar to labs most recent interpretation
  • Reassess variants using the ACMG/AMP guidelines for interpreting sequence variants
  • Share evidence & internal data used, when applicable
  • Identify persistent interpretation differences due to varying application of ACMG/AMP rules
  • Update variant classifications in ClinVar as needed
Documents Membership

Laboratories now participating in discrepancy resolution: