Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel

Abstract Background In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-sp...

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Main Authors: A. Drackley, C. Somerville, P. Arnaud, L. M. Baudhuin, N. Hanna, M. L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, B. Callewaert, A. Cecchi, H. Dietz, D. Guo, S. Harris, O. Jarinova, M. Lindsay, L. Little, B. Loeys, G. MacCarrick, J. Meester, D. Milewicz, T. Morisaki, H. Morisaki, D. Murdock, M. Renard, J. Richer, L. Robert, M. Ouzounian, L. Van Laer, J. De Backer, L. Muiño-Mosquera
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Genome Medicine
Subjects:
Marfan syndrome
FBN1
ACMG-AMP guidelines
Variant interpretation
Variant curation
Online Access:https://doi.org/10.1186/s13073-024-01423-3
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