P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease

• Dona Kanavy,
• Jenny Goldstein,
• Filippo Pinto e Vairo,
• Deeksha Bali,
• Xiangwen Chen-Deutsch,
• Taraka Donti,
• Shelly Goomber,
• Jennifer McGlaughon,
• Yinghong Pan,
• Bryce Seifert,
• Raquel Fernandez,
• Emily Kyle,
• Meredith Weaver,
• Lorne Clarke,
• Catherine Rehder

Affiliations

Dona Kanavy

UNC Health

Jenny Goldstein

UNC School of Medicine

Filippo Pinto e Vairo

Mayo Clinic

Deeksha Bali

Duke University Health System

Xiangwen Chen-Deutsch

Revvity

Taraka Donti

Revvity

Shelly Goomber

Duke University Health System

Jennifer McGlaughon

Invitae

Yinghong Pan

Revvity

Bryce Seifert

National Institute of Allergy and Infectious Diseases

Raquel Fernandez

American College of Medical Genetics and Genomics

Emily Kyle

American College of Medical Genetics and Genomics

Meredith Weaver

American College of Medical Genetics and Genomics

Lorne Clarke

University of British Columbia

Catherine Rehder

Duke University Health System