Systematic application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases

Date:
Monday, Jun 3, 2024 3:45pm – 4:45pm
Conference:
ESHG 2024
Authors:
Marcy E. Richardson, Tina Pesaran, MA, MS, CGC, Isabel Spier, Xiaoyu Yin, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, Thomas v O Hansen, Marta Pineda, Deborah Ritter, Johan de Dunnen, Emadeldin Hassanin, Lyman Lin, Ester Borras, Karl Krahn, Margareta Nordling, Alexandra Martins, Khalid Mahmood, Emily Nadeau, Victoria Beshay, Carli Tops, Maurizio Genuardi, Ian M Frayling, Gabriel Capellá, Andrew Latchford, Sean V. Tavtigian, Carlo Maj, Sharon E. Plon, Marc S Greenblatt, Finlay A Macrae, Stefan Aretz
Collaborators:

Nominated as Best Poster Candidate