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RNA and reclassification: Assessing RNA data in rare disease

Date:
Friday, Mar 21, 2025 10:30am – 11:30am
Conference:
ACMG 2025
Authors:
Jessica Gage, Jessica Grzybowski, Catherine Schultz, Melissa Holman, Carrie Horton, Marcy E. Richardson, Heather Zimmermann, Grace VanNoy, Shoji Ichikawa, Emily Kudalkar, Jesus Ramirez Castano, Brooklynn Gasser, Kevin Lam, Melissa Samons

Presenting Author: Catherine Schultz, MS, CGC

Take home point: 

  1. RNA data is complex to asses and requires expertise Splicing impacts can, but do not always, lead to variant reclassification RNA combined with ES offers potential for increasing diagnostic yield of ES
Poster Abstract