Genomic case conferences are live webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees (credits not included).

The use of next-generation sequencing in large gene panels and whole exome sequencing has yielded an increasing number of variants of uncertain significance (VUSs) requiring additional studies for proper interpretation. This presentation describes the use of RNA genetic testing to characterize VUSs and provides several patient case illuminated by this technique.

This course does not offer educational credits