Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
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; 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
Collaborators: Centro de Investigación Biomédica en Red de Cáncer; Copenhagen University Hospital; GeneDx; Greenwood Genetic Center; Haukeland University Hospital; Imperial College London; Invitae Corporation; Leiden University Medical Center; Linköping University; Medical Genetics Center Munich; Peter MacCallum Cancer Centre and Royal Melbourne Hospital; Royal Melbourne Hospital; St Vincent's University Hospital; Texas Children's Hospital; Universita Cattolica del Sacro Cuore; Université de Rouen Normandie; University of Bonn; University of Luxembourg; University of Melbourne; University of Utah; University of Vermont Cancer Center; University of Washington