P706: Improved interpretation of PHOX2B missense variants for diagnosis of congenital central hypoventilation syndrome (CCHS) using in silico prediction algorithms by Andy Drackley, Andrew Skol, Casey Rand, Debra Weese-Mayer, Kai Lee Yap

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P489: Retrospective review of genetic testing and variant reclassification in patients with congenital cataracts by Alexander Ing, Andy Drackley, Kevin Zhang, Kai Lee Yap, Hanta Ralay-Ranaivo, Jennifer Rossen

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A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene by Elizabeth S. Tranel, Bridget McGowan, Andy Drackley, Leon G. Epstein, Vamshi K. Rao, Nancy L. Kuntz, Abigail N. Schwaede

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P454: Investigating the efficacy of targeted NGS panels with rapid TAT for pediatric patients with narrow differential diagnoses by Andy Drackley, Pamela Rathbun, Alexander Ing, Alissa Wlodaver, Joshua Baker, Rachel Hickey, Merlene Peter, Anne McRae, Sarah Jurgensmeyer, Kai Lee Yap, Carlos Prada

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P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory by Kai Lee Yap, Anthony Wong, Sachleen Tuteja, Andrew Skol, Andy Drackley, Alexander Ing, Eleanor Hilton, Michael Carroll, Christopher McCabe, Sabah Kadri, Pamela Rathbun, Katrin Leuer, Joel Charrow

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