European Society of Human Genetics
Poster # P01.097.D
Monday, June 3, 2024 3:45 - 4:45pm Abstract
Isabel Spier, Xiaoyu Yin, Marcy E. Richardson, 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, Tina Pesaran, Ian M Frayling, Gabriel Capellá, Andrew Latchford, Sean V. Tavtigian, Carlo Maj, Sharon E. Plon, Marc S Greenblatt, Finlay A Macrae, Stefan Aretz. 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.
Session # C17.14
Sunday, June 2, 2024 11:06 - 11:09am Abstract
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 Capellá, Andrew Latchford, Sean V. Tavtigian, Carlo Maj, Sharon E. Plon, Marc S Greenblatt, Finlay A Macrae, Stefan Aretz, Andreas Laner. 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