The following documents and presentations are available to help people learn and understand the Gene Disease Validity curation process.  For questions about existing materials or requests for new materials, contact us at clingen@clinicalgenome.org.

Standard Operating Procedures and Appendices

Detailed documentation outlining the gene disease validity process. Current as of November 2017.

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Curation Spreadsheet Template version 5

An Excel spreadsheet to guide those groups not using the ClinGen Curation Interface in collecting and documenting evidence. This spreadsheet is for the most current framework (Version 5) that includes the changes in segregation scoring.

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General Training Presentation

Current as of August 2016.  Focuses on how to use the curation spreadsheet, but also provides general instruction on gene disease vailidty process.

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Interactive Training Modules

Interactive Powerpoint training modules walk users through basic gene-disease validity curation concepts.

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