P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*

• Emily Groopman,
• Jenny Goldstein,
• Amanda Thomas-Wilson,
• Daniel Reich,
• Emily Kyle,
• Vimla Aggarwal,
• Christine Preston,
• Kim Hart,
• Nicole Si Yan Liang,
• Sarah Young,
• Simona Bianconi,
• Nicola Longo,
• Heidi Wallis,
• Saadet Mercimek-Andrews

Affiliations

Emily Groopman

National Human Genome Research Institute, Bethesda, MD

Jenny Goldstein

University of North Carolina at Chapel Hill, Chapel Hill, NC

Amanda Thomas-Wilson

New York Genome Center, New York, NY

Daniel Reich

ARUP Laboratories, Salt Lake City, UT

Emily Kyle

American College of Medical Genetics and Genomics, Bethesda, MD

Vimla Aggarwal

Columbia University, New York, NY

Christine Preston

Stanford University, Palo Alto, CA

Kim Hart

Utah Public Health Laboratory, Taylorsville, UT

Nicole Si Yan Liang

The Hospital for Sick Kids, Toronto, Ontario, Canada

Sarah Young

Duke University, Durham, NC

Simona Bianconi

Kaiser Permanente, San Diego, CA

Nicola Longo

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT

Heidi Wallis

Association for Creatine Deficiencies, Carlsbad, CA

Saadet Mercimek-Andrews

Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada