American College of Medical Genetics and Genomics Annual Meeting
Poster # P061
Thursday, March 16, 2023 10:30 - 12:00pm Abstract Poster
Megan Holdren, MS,CGC, Marcy Richardson, PhD; Colin Young, PhD; Terra Brannan,Phd; Tina Pesaran, MS, CGC. ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel.
Poster # P545
Thursday, March 16, 2023 10:30 - 12:00pm Abstract Poster
Colin Young, PhD, Carrie Horton, MS-CGC; Heather Zimmermann, PhD; Jessica Grzybowski, MS, CGC; Rachid Karam, MD, PhD. A plot twist: When RNA evidence challenges our expectations of DNA results.
Poster # P575
Thursday, March 16, 2023 10:30 - 12:30pm Abstract
Meghan Towne, MS, CGC; Melissa Holman, MS, CGC; Margo Gallegos, MS, CGC; Heather Workman, MS, CGC; Amybeth Weaver, MS, CGC; Heather Zimmermann PhD. Variant reclassification in a large cardiogenetic testing cohort: The importance of disease specific variant classification criteria .
Poster # P076
Friday, March 17, 2023 10:30 - 12:30pm Abstract Poster
Michael Parsons, PhD, Marcy Richardson, Phd; Tina Pesaran, MS,CGC; Rachid Karam, MD, PhD. The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2.
Session # Industry Platform Presentation
Thursday, March 16, 2023 11:45 - 12:00pm
Meghan Towne. Variant reclassification in a large cardiogenetic testing cohort: The importance of disease-specific variant classification criteria
Session # Scientific Presentation
Tuesday, March 14, 2023 6:00 - 7:30pm
Steven M. Harrison, PhD, FACMG. ACMG/ClinGen/AMP/CAP standards for classifying sequence variants
Session # Laboratory Genetics and Genomics
Wednesday, March 15, 2023 10:30 - 12:00pm
Marcy Richardson, PhD. Classification of sequence variants in cancer susceptibility genes: Today and tomorrow