P623: Prenatal diagnosis of a RNU4ATAC-related disorder detected by whole genome sequencing not seen by exome sequencing on the initial proband

• Lisa Pilchman,
• Beverly Coleman,
• Allan Fisher,
• Natasha Combs,
• Kendall Kaufmann,
• Julie Moldenhauer,
• Juliana Gebb

Affiliations

Lisa Pilchman

Center for Fetal Diagnosis and Treatment

Beverly Coleman

Center for Fetal Diagnosis and Treatment

Allan Fisher

Variantyx, Inc.

Natasha Combs

Lehigh Valley Health Network

Kendall Kaufmann

Variantyx, Inc.

Julie Moldenhauer

Center for Fetal Diagnosis and Treatment

Juliana Gebb

Center for Fetal Diagnosis and Treatment