Variant Pathogenicity Training Materials
Interested in Variant Curation? The following documents and presentations are available to help people learn and understand the variant curation process, as well as ClinGen's efforts to modify ACMG variant assessment criteria. In order to get involved with our Variant Curation activities, please fill out our volunteer survey: http://bit.ly/clingenvolunteersurvey. For questions about existing materials or requests for new materials, contact us at clingen@clinicalgenome.org.
Variant Curation Standard Operating Procedure, Version 1
Detailed documentation outlining the variant curation process.
2015 ACMG/AMP Sequence Variant Interpretation Guidelines
The guidelines are freely available through PubMed Commons.
SVI General Recommendations for Using ACMG/AMP Criteria
SVI provides general recommendations for using the ACMG/AMP criteria to improve consistency in usage and transparency in classification rationale.
Video Tutorials
Videos describing how to use the ClinGen Allele Registry, as well as an overview of searching the literature for sequence variant evidence, including tips and tricks on effective use of variant nomenclature in your search, where to look and common literature search speed bumps, and how to overcome them.
Live VCI Training
Attend a live Variant Curation Interface (VCI) training to learn more about how to enter information for variant curations. The ClinGen Community Curation Group will contact you regarding this training, once you have either emailed volunteer@clinicalgenome.org or filled out the volunteer survey: http://bit.ly/clingenvolunteersurvey (Please use this option if you would like to volunteer to curate with ClinGen).
Attestation & Group Assignment
Once you have read through all of the information and attended a live VCI training session, you will be sent an attestation form to fill out. Once your attestation form is complete, the ClinGen Community Curation Group will contact you with your group assignment.
VCEP-specific ClinGen Variant Curation Training, Level 2
Level 2 variant curation training aims to educate the biocurator on the specific ACMG/AMP guideline specifications and variant assessment procedures outlined by their assigned variant curation expert panel (VCEP).
OPTIONAL Items
These OPTIONAL items include a video tutorial by Dr. Steven Harrison on "Variant Interpretation and the ClinGen Curation Interface Tool" and the Variant Curation Interface Help Document.