​Genomic Variant

Chaired by ClinGen investigators Christa Martin, Sharon Plon, and Heidi Rehm, the Genomic Variant WG brings together representatives from the Sequence and Structural Variant communities for focused discussions on resolving discrepancies in variant interpretation and creating consistent curation guidelines.  In addition to providing overarching leadership, the Genomic Variant WG promotes synergy among its various task-teams. These task teams are primarily focused on performing variant curation in high priority disease domains, such as: Congenital Muscular Dystrophy, Developmental Delay, Rett syndrome, Angelman syndrome, early infantile epileptic encephalopathy, Mowat-Wilson Syndrome, and the RASopathies.  To learn more about these task teams, please click on their subpages below.

Task Teams

  • Copy Number Variant Interpretation Guidelines

    Additional information about Copy Number Variant Interpretation Guidelines available by clicking the link here.
  • Sequence Variant Inter-Laboratory Discrepancy Resolution

    Resolve variants with interpretation differences in ClinVar
  • Dosage Sensitivity Curation

    The Dosage Sensitivity Curation task team uses a systematic process by which to evaluate the evidence supporting or refuting the dosage sensitivity of individual genes and genomic regions. This information can ultimately be used to inform future cytogenomic microarray designs and clinical interpretation decisions.   What is the process? We have outlined the framework for such a process in a 2012 Clinical Genetics article (PMID: 22097934). Riggs et al. 2012. Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet 81(5):403-12.   How can I ...

Leadership & Members

Christa Lese Martin, PhD, FACMG
Principal Investigator, "Unified Clinical Genomics Database" (U41 Grant)
Sharon E. Plon, MD, PhD
2014 ClinGen Steering Committee Chair. Principal Investigator, U01 HG007436 grant
Heidi Rehm, PhD
Principal Investigator, "Unified Clinical Genomics Database" (U41 Grant)