Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Tracy BrandtLaura M SackDolores ArjonaDuanjun TanHui MeiHong CuiHua GaoLora J H BeanArunkanth AnkalaDaniela Del GaudioAmy Knight JohnsonLisa M VincentCaitlin ReaveyAmy LaiGabriele RichardJeanne M MeckPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
These single-gene CNV criteria modifications could be used as a supplement to the ACMG/AMP guidelines for sequence variants, allowing for a streamlined workflow and a step toward a uniform classification system for both sequence and copy number alterations.