P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*

• Marina DiStefano,
• Ryan Webb,
• Hannah McCurry,
• Shannon McNulty Gray,
• Swati Tomar,
• Prasad Kopparapu,
• Eleanor Broeren,
• Kezang Tshering,
• Alan Beggs,
• Enrico Silvio Bertini,
• Adele D'Amico,
• Sandra Donkervoort,
• James Dowling,
• Fabiana Fattori,
• Ana Ferreiro,
• Casie Genetti,
• Hernan Gonorazky,
• Svetlana Gorokhova,
• Amanda Lindy,
• Livija Medne,
• Sander Pajusalu,
• Katarina Pelin,
• John Rendu,
• Matteo Vatta,
• Tom Winder,
• Hui Yang,
• Grace Yoon,
• Ozge Ceyhan-Birsoy,
• Carsten Bönnemann

Affiliations

Marina DiStefano

The Broad Institute

Ryan Webb

The Broad Institute

Hannah McCurry

The Broad Institute

Shannon McNulty Gray

UNC Medical School

Swati Tomar

National University of Singapore

Prasad Kopparapu

Nationwide Children's Hospital

Eleanor Broeren

The Broad Institute

Kezang Tshering

The Broad Institute

Alan Beggs

Boston Children's Hospital

Enrico Silvio Bertini

Bambino Gesu' Children's Research Hospital IRCCS

Adele D'Amico

Bambino Gesù Children's Hospital

Sandra Donkervoort

NIH

James Dowling

The Hospital for Sick Children

Fabiana Fattori

Bambino Gesu' Children's Research Hospital IRCCS

Ana Ferreiro

Institut national de la santé et de la recherche médicale

Casie Genetti

Boston Children's Hospital

Hernan Gonorazky

The Hospital for Sick Children

Svetlana Gorokhova

Aix-Marseille University

Amanda Lindy

GeneDx

Livija Medne

Children's Hospital of Philadelphia

Sander Pajusalu

Tartu University Hospital

Katarina Pelin

University of Helsinki

John Rendu

University Grenoble Alpes/Centre Hospitalier Universitaire Grenoble Alpes

Matteo Vatta

Invitae

Tom Winder

Invitae

Hui Yang

GeneDx

Grace Yoon

The Hospital for Sick Children

Ozge Ceyhan-Birsoy

Memorial Sloan Kettering Cancer Center

Carsten Bönnemann

NIH