Session # P575

Variant reclassification in a large cardiogenetic testing cohort: The importance of disease specific variant classification criteria  

-95% of VUSs in this study were reclassified to LB/B
-Further emphasizes that patient management decisions should not be made based on a reported VUS and education on this point is crucial with more non-genetics providers order genetic testing 
-Many of the reclassifications were due to our laboratory’s CVD-tailored variant classification criteria and our continual work to improve variant classification tools
-Gene-disease-specific classification criteria can optimize accurate variant classification and decrease VUS rates

  • Authors: Meghan Towne, MS, CGC; Melissa Holman, MS, CGC; Margo Gallegos, MS, CGC; Heather Workman, MS, CGC; Amybeth Weaver, MS, CGC; Heather Zimmermann PhD
  • Conference: ACMG 2023
  • Date: Thursday, Mar 16, 2023 10:30am - 12:30pm

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