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.

1
Required

Variant Curation Standard Operating Procedure, Version 1

Detailed documentation outlining the variant curation process.

Start Variant Curation Standard Operating Procedure, Version 1
2
Required

2015 ACMG/AMP Sequence Variant Interpretation Guidelines

The guidelines are freely available through PubMed Commons.

Start Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
3
Required

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.

Start Sequence Variant Interpretation
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Required

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.

Start Using the ClinGen Allele Registry
Start Sequence Variant Literature Search Tips and Tricks
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Required

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 filled out the volunteer survey: http://bit.ly/clingenvolunteersurvey.

6
Required

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.

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Optional

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.

Start Interpreting Genomes
Start Variant Curation Interface Help Document

ViewBA1 Exception List

Supporting Documents - July 30, 2018

ViewStandards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Supporting Documents - May 17, 2017 - The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants.