Glossary

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Variant

"An individual’s genetic code contains millions of differences when compared to the human reference sequence. These differences, referred to . . . as variants, are also sometimes called mutations. Genetic variants may be benign and have no impact or may be pathogenic and causative of disease." ("Introduction and Overview to Genomic Test Reports." Clinical Sequencing Exploratory Research – CSER. Accessed May 7, 2018). 

VUS

"A variation in a genetic sequence whose association with disease risk is unknown. Also called unclassified variant, variant of uncertain significance, and variant of unknown significance." (NCI Dictionary of Genetics Terms, National Cancer Institute. Accessed May 3, 2018).