White papers
A guide to understanding variant classification
May 24, 2016

Clarity is crucial in diagnostic decision-making

In genetic diagnostics, variant classification forms the basis for clinical judgment. Proper classification of variants is therefore critical to your ability to appropriately manage your patient and realize the best possible outcomes.

Without thorough interpretation and evaluation of the evidence, sequencing results are not much more than meaningless data points. It is therefore crucial that the clinician is confident in the judgments made by their genetic diagnostics laboratory when it comes to variant classification.

It is standard practice across the genetic diagnostics industry for every company to develop and use its own in-house variant classification system. Most of the guidelines follow the recommendations of the ACMG guidelines, however, there are differences between the classification systems. This can be quite confusing, especially when it results in different classifications of the same variant between companies. Referring clinicians and genetic counselors should feel comfortable with the classification system used by their genetics diagnostics laboratory.

We aim to be transparent in everything we do, and that includes the decisions made during variant classification. When we share this information with you, you should have a clear understanding of how the sequencing results are evaluated and interpreted. We believe transparency provides assurance that variants are systematically and consistently classified according to established guidelines and practices. The end result is that you can make more confident diagnostic decisions based on our conclusions.

Download our white paper to find out how we classify genetic variants when interpreting patient results.


Last modified: September 30, 2020