CNV Technical Standards Web Series

ClinGen will host 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).

Webinars will take place on Thursdays at 2pm US Eastern time beginning January 16, 2020.  Each webinar will be approximately 1 hour in length, and will be recorded and made available on the ClinGen website and YouTube channel.

Each week, a different aspect of the technical standards will be highlighted in depth:

Date Topic Presenter
January 16, 2020 Overview: Updated Technical Standards for Constitutional CNVs

Erin Rooney Riggs (Geisinger)

January 23, 2020 Use of the ClinGen Dosage Sensitivity Map

Erica Andersen (ARUP)

January 30, 2020 Scoring Case-Level Data Erin Rooney Riggs (Geisinger)
February 6, 2020 Special Considerations in the Evaluation of Intragenic CNVs Daniel Pineda-Alvaraz (Invitae)
February 13, 2020 Understanding Case-Control Data Bradley Coe (BC Children's and BC Women's Hospitals)
February 20, 2020 Resources for Population CNV Data: gnomAD SV Ryan Collins (Broad Institute)
February 27, 2020 Resources for Population CNV Data: Database of Genomic Variants (DGV) Jeff MacDonald (The Hospital for Sick Children)
March 5, 2020 Uncoupling Variant Classification from Clinical Significance: Considerations for Reporting Christa Lese Martin (Geisinger)
March 12, 2020 General Questions and Answers All

If you are interested in attending one or more of these sessions, please register at the link on the right.

If you registered before January 7, 2020, you should have received an email with the teleconference information.  If you did not receive this, please contact us at

If you register after January 7, 2020, the teleconference information will appear as the last page of the registration survey.  Please be sure to copy it into your calendar.  


Register Today

Please contact with any questions related to this web series.