P703: The phenotypic effects of loss-of-function variants in WDR45

Conclusion: This evolving process is creating uncertainty in point-of-care decision-making, driven by current evidence and evolving standards.Our data indicated that variant reclassification could be considered the first-tier approach for undiagnosed diseases before exploring other advanced technologies.Additional family studies can significantly enhance the success rate of VUS reclassification by providing de novo status and co-segregation data, which should be actively considered for patients with VUS.Follow-up reclassification is recommended within five years.