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

Nominated as Best Poster Candidate