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allelic variant of unknown significance

1) An alteration in the normal sequence of a gene, the significance of which is unclear until further study of the genotype and corresponding phenotype in a sufficiently large population; complete gene sequencing often identifies numerous (sometimes hundreds) allelic variants for a given gene.

2) A variation in a genetic sequence whose association with disease risk is unknown. Also called variant of uncertain significance, unclassified variant, and VUS.

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  • Max Bryant
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