About Variant Curation
Last updated
Last updated
The ClinGen variant curation process combines clinical, genetic, population, and functional evidence with expert review to classify variants into one of five categories according to the ACMG guidelines. Approved variant interpretations are published to the ClinGen Evidence Repository (ERepo) and to ClinVar.
The Variant Curation Interface (VCI) supports community curation and is available to any interested curator. For information on how to register, see Account Creation and Login.
The VCI supports the ClinGen FDA-recognized curation workflow, summarized in the diagram below:
The ClinGen General Sequence Variant Curation Process Standard Operating Procedure (SOP) provides guidance on variant classification using ClinGen approved processes and tools. The SOP is updated periodically; updates will be announced during ClinGen curator calls and via mailing lists. Additional variant curation training materials are available here.
For more information about ClinGen variant curation, please contact the Variant Curation Working Group at variantcuration@clinicalgenome.org.
