P676: Deciphering the collagen code: Navigating variant curation complexities in skeletal disorders

• Pamela Ajuyah Robertson,
• Alicia Byrne,
• Julie Ratliff,
• Audrey O'Neill,
• Marina DiStefano,
• Deepika Burkardt,
• Carlos Ferreira,
• Kerry Brown

Affiliations

Pamela Ajuyah Robertson

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA

Alicia Byrne

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA

Julie Ratliff

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA

Audrey O'Neill

Invitae, San Francisco, CA

Marina DiStefano

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA

Deepika Burkardt

Clinical Center, National Institutes of Health, Bethesda, MD

Carlos Ferreira

Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health

Kerry Brown

HNL Genomics (Connective Tissue Gene Tests), HNL Lab Medicine, Allentown, PA