Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
Cristina Fortuño, Kristy Lee, Magali Olivier, Tina F. Pesaran, Phuong L. Mai, Kelvin C. de Andrade, Laura Donatella Attardi, Stephanie B. Crowley, D. Gareth Evans, Bing Feng, Ann Katherine M. Foreman, Megan N. Frone, Robert Huether, Paul Andrew James, Kelly McGoldrick, , the ClinGen TP53 Variant Curation Expert Panel
The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.
Human Mutation · Dec 10, 2020Peer-reviewedGenetic & Genomic Medicine