Session # P01.097.D

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

Nominated as Best Poster Candidate

• Authors: 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
• Collaborators: ClinGen
• Conference: ESHG 2024
• Date: Monday, Jun 03, 2024 3:45pm - 4:45pm