CNV Technical Standards Web Series

A multi-part web series to educate the community about the newly released ACMG/ClinGen technical standards for interpretation and reporting of constitutional copy number variants (CNVs).

Please use this form to submit challenging cases for review and public feedback.  Once a quarter, the ACMG/ClinGen CNV technical standards working group will review submitted cases and select a few for discussion on a publicly available web conference. 

  • DO NOT submit any sensitive information through this form (i.e., patient name, DOB, etc.). 
  • Please be aware that these cases will be reviewed once a quarter - do not submit active cases through this forum, or hold cases awaiting feedback. 
  • Depending on volume, we may not be able to review every submitted case on the call.
  • Be sure to include your contact information in case we have follow-up questions about your case.  If you have any questions, contact us at

Submit challenging cases for review and public feedback