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

Speakers:
Isabel Spier, Xiaoyu Yin, Marcy E. Richardson, 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, Tina Pesaran, Ian M Frayling, Gabriel Capellu00e1, Andrew Latchford, Sean V. Tavtigian, Carlo Maj, Sharon E. Plon, Marc S Greenblatt, Finlay A Macrae, Stefan Aretz, Andreas Laner
Conference:
ESHG 2024
Sunday, Jun 2, 2024 11:06am – 11:09am
Collaborators:
Collaborators: