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