Thursday March 16 Poster Session 10:30 AM – 12:30 PM (3 Posters) Oral Presentations 11:45 AM – 12:00 PM
Session PP545 A plot twist: When RNA evidence challenges our expectations of DNA results Abstract Poster Colin Young, PhD, Carrie Horton, MS-CGC; Heather Zimmermann, PhD; Jessica Grzybowski, MS, CGC; Rachid Karam, MD, PhD
Session PP575 Variant reclassification in a large cardiogenetic testing cohort: The importance of disease specific variant classification criteria Abstract Meghan Towne, MS, CGC; Melissa Holman, MS, CGC; Margo Gallegos, MS, CGC; Heather Workman, MS, CGC; Amybeth Weaver, MS, CGC; Heather Zimmermann PhD
Session PP061 ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel Abstract Poster Megan Holdren, MS,CGC, Marcy Richardson, PhD; Colin Young, PhD; Terra Brannan,Phd; Tina Pesaran, MS, CGC
Session PP076 The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2 Poster Abstract Michael Parsons, PhD, Marcy Richardson, Phd; Tina Pesaran, MS,CGC; Rachid Karam, MD, PhD
Session Scientific Presentation ACMG/ClinGen/AMP/CAP standards for classifying sequence variants Steven M. Harrison, PhD, FACMG
Session Laboratory Genetics and Genomics Classification of sequence variants in cancer susceptibility genes: Today and tomorrow Marcy Richardson, PhD
Session Industry Platform Presentation Variant reclassification in a large cardiogenetic testing cohort: The importance of disease-specific variant classification criteria Meghan Towne