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 email@example.com.
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.
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.