The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be interpreted with respect to the patients indication for testing. In this presentation we will review how to evaluate population frequencies, conservation analyses, pathogenicity predictions, splicing predictions, and published literature, and learn how to synthesize these data to determine variant classifications. We will also discuss important considerations and common pitfalls in the interpretation process, and learn how to construct variant interpretations for clinical reports.
After completing this activity, the learner will be able to: