ACMG 2023

American College of Medical Genetics and Genomics Annual Meeting

Research

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Scientific Posters

Thursday, March 16, 2023

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 # 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 # 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 .

Friday, March 17, 2023

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.