Understanding the classification categories on a genetic report
Is your variant pathogenic, likely pathogenic or a
Variant of Uncertain Significance (VUS)?
The video below explains the genetic report and what it means for your CACNA1A diagnosis
Wendy Chung, MD, PhD is an ABMG board-certified clinical and molecular geneticist with over 20 years of experience in human genetic research of monogenic and complex traits. She has extensive experience mapping and cloning genes in humans, describing the clinical characteristics and natural history of novel genetic conditions, characterizing the spectrum of disease, and developing tailored care and treatments for rare genetic diseases. Dr. Chung is the Chief of the Department of Pediatrics at Harvard Medical School/Boston Children’s Hospital. She runs the Chung Lab at Boston Children’s Hospital in Human Genetics and Precision Medicine, where she oversees the CACNA1A Natural History Study. Previously, she was the Chief of the Division of Clinical Genetics, Department of Pediatrics at Columbia University Medical Center/NewYork-Presbyterian Morgan Stanley Children's Hospital.