Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

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Date: October 10, 2024
Authors:
Alexandra Martins, Andreas Laner, Andrew Latchford, Carli Tops, Carlo Maj, Deborah Ritter, Elisabet Ognedal, Emadeldin Hassanin, Emily Nadeau, Ester Borras, Finlay A Macrae, Gabriel Capellá, Ian M Frayling, Isabel Spier, Johan de Dunnen, Karl Krahn, Khalid Mahmood, Marc S Greenblatt, Marcy Richardson, Margareta Nordling, Marta Pineda, Maurizio Genuardi, Sean V. Tavtigian, Sharon E. Plon, Stefan Aretz, Thomas v O Hansen, Tina Pesaran, MA, MS, CGC, Valeria Vasta, Victoria Beshay, Wencong Lyman Lin, Xiaoyu Yin, Xuemei Shi
Journal: American Journal of Human Genetics
Journal Volume: 9297