Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
Christopher M. Richmond, Paul A. James, Sarah‐Jane Pantaleo, Belinda Chong, Sebastian Lunke, Tiong Yang Tan, Ivan Macciocca
Topics & Concepts
MYH7ProbandMedical geneticsPedigree chartGenotypingMedicineGeneticsBiologyGenotypeGeneMutationGene isoformCardiomyopathy and Myosin StudiesGenomics and Rare DiseasesConnective tissue disorders research