High-throughput reclassification of SCN5A variants
Andrew Michael Glazer, Yuko Wada, Bian Li, Ayesha Muhammad, Olivia R. Kalash, Matthew J. O’Neill, Tiffany Shields, Lynn D. Hall, Laura L Short, Marcia A. Blair, Brett M. Kroncke, John A. Capra, Dan M. Roden
This study reclassifies SCN5A variants using high-throughput patch clamping, finding most variants of uncertain significance are either benign or pathogenic.
The American Journal of Human Genetics · Jun 12, 2020Peer-reviewedGenetics