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Large-scale Application of ClinGen-InSiGHT APC-specific ACMG/AMP Variant Classification Criteria Leads to Substantial Reduction in VUS

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 Capella,Andrew Latchford,Sean Tavtigian,Carlo Maj,Sharon E. Plon,Marc S. Greenblatt,Finlay A. Macrae,Isabel Spier,Stefan Aretz

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

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Key words
ACMG/AMP variant classification guidelines,Adenomatous polyposis coli,APC,ClinGen,familial adenomatous polyposis,FAP,InSiGHT
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