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Article

Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2021

Richmond Christopher M, James Paul A, Pantaleo Sarah-Jane, Chong Belinda, Lunke Sebastian, Tan Tiong Y, Macciocca Ivan

Abstract excerpt

PURPOSE: ClinGen provides gene-specific guidance for interpretation of sequence variants in MYH7. We assessed laboratory and clinical impact of reclassification by the American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) and ClinGen recommendations in 43 MYH7 variants reported by a diagnostic laboratory between 2013 and 2017. METHODS: Fifty-two proband reports...

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PMID: 33568804
DOI: 10.1038/s41436-021-01107-y

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