P749: BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes by Matthew Johnson, Ashley Marsh, Laura Hudish, Marcy Richardson, Steven Harrison

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P445: Beyond NGS: Detailed analysis of Sanger, MLPA and RNA confirms tuberous sclerosis complex in clinically diagnosed patients by Sara Berger, Jamie Weyandt, Marcy Richardson, Catherine Mayo, Andrés Morales Corado

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P114: Over-representation of PMS2CL pseudogene interference in PMS2 testing in a non-European cohort by Emily Maxwell, Ayanna Boyce, Caitlin Reid, Ashley Marsh, Kevin Beezhold, Timothy Komala, Katie Lang, Marcy Richardson, Colby Chase

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P290: RNA and reclassification: Assessing RNA data in rare disease by Grace VanNoy, Jessica Gage, Jessica Grzybowski, Shoji Ichikawa, Emily Kudalkar, Catherine Schultz, Jesus Ramirez Castano, Brooklynn Gasser, Melissa Holman, Carolyn Horton, Kevin Lam, Melissa Samons, Marcy Richardson, Heather Zimmermann

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A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations by Anton Safonov, Tomoki T. Nomakuchi, Elizabeth Chao, Carrie Horton, Jill S. Dolinsky, Amal Yussuf, Marcy Richardson, Virginia Speare, Shuwei Li, Zoe C. Bogus, Maria Bonanni, Anna Raper, Trust Odia, Bradley S. Wubbenhorst, Elsa Faulders, Elisabeth M. Schuth, Kate Loranger, Jingwen Zhang, Carly Bess Scalise, Adam ElNaggar, Youbao Sha, Stephanie A. Felker, Jeffrey Weitzel, Staci Kallish, Marylyn D. Ritchie, Penn Medicine BioBank, Katherine L. Nathanson, Theodore G. Drivas

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Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management by Giovanni Innella, Cristina Fortuno, Laura Caleca, Bing‐Jian Feng, Courtney Carroll, Michael T. Parsons, Sara Miccoli, Marco Montagna, Daniele Calistri, Laura Cortesi, Barbara Pasini, Siranoush Manoukian, Daniela Giachino, Laura Matricardi, Maria Cristina Foti, Valentina Zampiga, Claudia Piombino, Elena Barbieri, Francesca Vignolo Lutati, Jacopo Azzolini, Rita Danesi, Valentina Arcangeli, Sandrine M. Caputo, Nadia Boutry‐Kryza, Vincent Goussot, Susan Hiraki, Marcy Richardson, Hereditary Breast/Ovarian Cancer IOV network (HBOC IOVnet), Simona Ferrari, Paolo Radice, Amanda B. Spurdle, Daniela Turchetti

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