Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of : A Potential Source of Misinterpretation.

Primary cardiac channelopathies are a group of diseases wherein the role of DNA testing in aiding diagnosis and treatment-based decision-making is gaining increasing attention. However, in some cases, evaluating the pathogenicity of new variants is still challenging. We report an accurate multistage assessment of a rare genetic variant in the gene using next-generation sequencing (NGS) techniques and Sanger sequencing.