Specifying the ACMG/AMP Variant Sequence Interpretation Guidelines for Congenital Myopathies
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Presenting Author - Marina T. DiStefano, PhD, FACMG; Co-Author - Ryan Webb, BS; Co-Author - Hannah McCurry, BS; Co-Author - Shannon M. McNulty Gray, PhD; Co-Author - Swati Tomar, PhD; Co-Author - Prasad R. Kopparapu; Co-Author - Eleanor Broeren, BS; Co-Author - Kezang Tshering, BS; Co-Author - Alan H. Beggs, PhD; Co-Author - Enrico Silvio Bertini, MD; Co-Author - Adele D'Amico, MD, PhD; Co-Author - Sandra Donkervoort, MS, CGC; Co-Author - James Dowling, MD, PhD; Co-Author - Fabiana Fattori, PhD; Co-Author - Ana Ferreiro, MD, PhD; Co-Author - Casie Genetti, CGC; Co-Author - Hernan Gonorazky, MD; Co-Author - Svetlana Gorokhova, PhD; Co-Author - Amanda S. Lindy, PhD; Co-Author - Livija Medne, MS, LCGC; Co-Author - Sander Pajusalu, MD, PhD; Co-Author - Katarina Pelin, PhD; Co-Author - John Rendu, MD; Co-Author - Matteo Vatta, PhD; Co-Author - Tom Winder, PhD; Co-Author - Hui Yang, PhD, FACMG; Co-Author - Grace Yoon, MD; Co-Author - Ozge Ceyhan-Birsoy, PhD; Co-Author - Carsten Bönnemann, MD;
Meta Tag
Congenital Anomaly
Genetic Testing
Musculoskeletal system
Co-Author Ryan Webb, BS
Co-Author Hannah McCurry, BS
Co-Author Shannon M. McNulty Gray, PhD
Co-Author Swati Tomar, PhD
Co-Author Prasad R. Kopparapu
Co-Author Eleanor Broeren, BS
Co-Author Kezang Tshering, BS
Co-Author Alan H. Beggs, PhD
Co-Author Enrico Silvio Bertini, MD
Co-Author Adele D'Amico, MD, PhD
Co-Author Sandra Donkervoort, MS, CGC
Co-Author James Dowling, MD, PhD
Co-Author Fabiana Fattori, PhD
Co-Author Ana Ferreiro, MD, PhD
Co-Author Casie Genetti, CGC
Co-Author Hernan Gonorazky, MD
Co-Author Svetlana Gorokhova, PhD
Co-Author Amanda S. Lindy, PhD
Co-Author Livija Medne, MS, LCGC
Co-Author Sander Pajusalu, MD, PhD
Co-Author Katarina Pelin, PhD
Co-Author John Rendu, MD
Co-Author Matteo Vatta, PhD
Co-Author Tom Winder, PhD
Co-Author Hui Yang, PhD, FACMG
Co-Author Grace Yoon, MD
Co-Author Ozge Ceyhan-Birsoy, PhD
Co-Author Carsten Bönnemann, MD
Presenting Author Marina T. DiStefano, PhD, FACMG
Keywords
variant curation
Expert Panel Approval Steps
CM VCEP
refining criteria
pilot variants
approved phenotypes
ACMG SVI Guidelines
REVEL score
spliceAI
PS4 weight

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