Systematic large-scale application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases
Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, Thomas van Overeem Hansen, Marta Pineda, Deborah Ritter, Johan T. den Dunnen, Emadeldin Hassanin, Wencong Lyman Lin, Ester Borràs, Karl Krahn, Margareta Nordling, , Stefan Aretz
medRxiv · May 3, 2024 · PreprintGenetic & Genomic Medicine