Curating the Clinical Genome 2024
Poster # 21
Thursday, May 9, 2024 5:00 - 6:00pm Abstract Poster
Marcy E. Richardson, Terra Brannan, Susan Hiraki, Megan Holdren, Huei San Leong, Victor Martinez, Yu Mei, Akila S. Shanmugasundaram, Shofia Souceradjou, Colin Young, Lauren Zec, Fergus J. Couch. ClinGen HBOP VCEP curation of ATM variants associated with Ataxia-Telangiectasia.
Poster # 27
Thursday, May 9, 2024 5:00 - 6:00pm Abstract Poster
Jennifer Herrera-Mullar, Meghan C. Towne, Amybeth Weaver, Jennifer Huang, Carolyn Horton, Bess Wayburn. Pushing the Limit(ed)s: Modifications to a Gene-Validity Framework for Common Diseases and the Impact on Clinical Utility of Genetic Testing.
Session # N/A
Friday, May 10, 2024 10:00 - 10:30am Abstract
Marcy E. Richardson. Current Work of the APC Subcommittee of the InSiGHT- ClinGen Hereditary CRC/Polyposis Variant Curation Expert Panel: Interpretation of Selected APC Variants Based on the APC-Specific ACMG/AMP Variant Classification Criteria