O51: VUS subcategorization in a points-based variant classification system and improvements to cascade testing recommendations using evidence-codes

Variants of uncertain significance (VUS) describe a wide spectrum of potential association with disease, ranging from those that are nearly likely pathogenic to those that are nearly likely benign. It has been hypothesized that a point-based variant classification system would enable a VUS subcategorization framework that more effectively conveys the current understanding of the evidence for or against pathogenicity to clinicians and patients. Furthermore, such a system might provide actionable information to guide next-steps, such as cascade testing of family members.