How do you read a ClinVar record?

GenomeConnect and the Patient Data Sharing Program enable patient-centered data sharing. The primary place where data are shared is NCBI's ClinVar. Learn more about what ClinVar is and how to read a ClinVar record below. 

ClinVar is a publicly available database of:

1. Genetic Variants - Genetic variants are changes in your DNA. DNA is the molecule that contains the instructions for your body using four letters: A, T, G, and C. Each instruction is called a 'gene.'  All of our DNA is packaged into structures called chromosomes. 

  • Sequence variants are small changes in the DNA sequence. For example, where most people have an “C,” some individuals may have a “T.”

  • Copy number variants include larger changes where an entire gene or even a large part of the chromosome may be missing or duplicated. 

2. Variant Interpretation - Genetic testing laboratories use all available information to determine how a specific variant impacts health. Their conclusion is called the "variant interpretation" and falls into one of five categories. Variant interpretation may change as laboratories better understand the variant.

  • Pathogenic - The genetic change is thought to impact gene function and contribute to disease. A pathogenic variant could explain a person’s symptoms, increase an individual’s chance to develop a certain condition, or increase the chance of having a child with a certain condition.

  • Likely Pathogenic -  It is likely that this genetic change impacts a gene's function and contributes to disease. More evidence might help say this more definitively. Likely pathogenic variants might explain a person’s symptoms, increase an individual’s chance to develop to a certain condition, or increase the chance of having a child with a certain condition.

  • Uncertain Significance - There is not enough information about this genetic change. It has an uncertain or unclear impact on health.

  • Likely Benign - It is likely that this genetic change does not impact a gene's function. More evidence might help say this more definitively. Likely benign variants likely do not independently impact health.

  • Benign - This genetic change is not thought to impact gene function and independently cause disease

How to search ClinVar and review a record:

You can search ClinVar and review a record by following the steps below. It is possible that variant interpretation may differ between submitters. This is not uncommon and could be due to the following: 

  • Over time, advances in research help laboratories to better understand a variant, leading to a different interpretation.

  • A ClinVar record may be outdated.

  • The groups may have come to a different conclusion about clinical significance.

If you have questions about your genetic test results, contact your healthcare provider or find a genetic counselor in your area.