Variant Classification

How we classify genetic variants when interpreting patients results

In genetic diagnostics, variant classification forms the basis for clinical judgment. Despite the international guidelines and principles, there is still significant inter-laboratory variation in classification of genetic variants. A wrong classification can misguide the clinical judgment in patient care including severe consequences in risk stratification among family members. Blueprint Genetics is dedicated to full transparency in diagnostics and this includes our variant classification strategy. Our clinical statements provide all the evidence behind our variant classification. We believe this is critical information for a healthcare professional who makes clinical decisions based on the test result. Blueprint Genetics submits to ClinVar all variants we classify to help other patients and to enhance the development of the field.

Variant classification SchemeFounded in sound practices, built by the best

Blueprint Genetics has developed a variant classification scheme primarily intended to classify variants in rare monogenic disorders. Our scheme closely follows the latest guidelines and interpretation criteria established by the American College of Medical Genetics and Genomics, the industry standard for clinical genetic diagnostics laboratories.

Systematic, clear, and sensible variant evaluation criteria 

Our schemes have been validated with tens of thousands of rare disease patients and evaluated by a number of medical and clinical geneticists around the world. Variants are evaluated using evidence from population and gene-/disease-specific databases, in silico prediction tools, our in-house variant database, multiple publicly and commercially available mutation databases and appropriate scientific literature. To this end, we use points to evaluate variants for potential pathogenicity with evidence from the relevant databases, and literature as the foundation for scoring.


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Last modified: January 18, 2024