Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline [Original Articles]

Conclusions:
Our study shows that classification of variants remains challenging and may change over time. Currently, a higher level of evidence is necessary to classify a variant as pathogenic. Gene-specific guidelines may be useful to allow a more precise and uniform interpretation of the variants to accurately support clinical decision-making.

Source: Circulation: Cardiovascular Genetics - June 6, 2018 Category: Cardiology Authors: Muino-Mosquera, L., Steijns, F., Audenaert, T., Meerschaut, I., De Paepe, A., Steyaert, W., Symoens, S., Coucke, P., Callewaert, B., Renard, M., De Backer, J. Tags: Genetics, Aneurysm, Aortic Dissection Original Articles Source Type: research