Variant pathogenicity as assessed by ACMG criteria is a strong predictor of event free survival There was a highly significant difference in event-free survival when genotype positive group consisting of all patients with variants classified by ACMG as P/LP (including those listed in ClinVar) was compared to reference group of patients with no variant found or with variants classified as B/LB by both ClinVar and ACMG, p = 0.00096.
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Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
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