Exome & General Genetics

Session # Abstract Poster# 715

Has Anything Changed? Reclassification of Epilepsy Genetic Variants

  • Continued assessment of variant classification is paramount
  • Familial variant testing programs is a highly effect strategy for VUS resolution
  • The availability of upfront parental studies can reduce the number of reclassification and the need to recounsel patients.

  • Authors: Catherine Schultz; Kirsten Blanco; Zöe Powis; Shoji Ichikawa
  • Conference: Annual Clinical Genetics Meeting (ACMG) 2019
  • Date: Thursday, Apr 04, 2019 10:00am - 11:30am

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