ClinGen Member Profile

Jenny Goldstein, PhD, CGC

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Working Groups & Expert Panels

• Aminoacidopathy Gene Curation Expert Panel
• Biocurator
• Brugada Syndrome Gene Curation Expert Panel
• Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel
• Clinical Domain Working Groups
• Community Curation
• Data Platform
• Education, Coordination and Training
• Gene Curation
• General Gene Curation Expert Panel
• Hypertrophic Cardiomyopathy Gene Curation Expert Panel
• Lumping and Splitting
• Lysosomal Storage Disorders Variant Curation Expert Panel
• Peroxisomal Disorders Gene Curation Expert Panel
• Phenylketonuria Variant Curation Expert Panel
• Retina Gene Curation Expert Panel

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Past Groups

• ACADVL Variant Curation Expert Panel

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