Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis by Anne-Sophie van der Werf't Lam, Noah C. Helderman, Arnoud Boot, Diantha Terlouw, Hans Morreau, Hailian Mei, Rebecca E.E. Esveldt-van Lange, Inge M.M. Lakeman, Christi J. van Asperen, Emmelien Aten, Nandy Hofland, Pia A.M. de Koning Gans, Emily Rayner, Carli Tops, Niels de Wind, Tom van Wezel, Maartje Nielsen

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Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance by Amina Kurtovic-Kozaric, Lejla Delalic, Belma Mutapcic, Lejla Comor, Eric Siciliano, Mark J. Kiel

Subjects: “…variants of unknown significance…”
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Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis by Estefanía Martínez-Barrios, Andrea Greco, José Cruzalegui, Sergi Cesar, Nuria Díez-Escuté, Patricia Cerralbo, Fredy Chipa, Irene Zschaeck, Miguel Fogaça-da-Mata, Carles Díez-López, Elena Arbelo, Simone Grassi, Antonio Oliva, Rocío Toro, Georgia Sarquella-Brugada, Oscar Campuzano

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Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China by Jingyu Li, Shiyu Zhou, Jiahong Pei, Wanzhen Li, Rongjie Cui, Xiaofei Ren, Jingru Wei, Qian Li, Baosheng Zhu, Yaliang Sa, Yunlong Li

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