What does "ClinVar" mean?
Table of Contents
ClinVar is a database that collects information about genetic variants and their relationship to health. It helps doctors and researchers understand how certain changes in our genes can lead to various diseases.
Purpose
The main goal of ClinVar is to provide a central place for information about genetic variants, which can help in medical decisions. By looking at this data, professionals can see whether a specific genetic change is known to cause a disease or if it's just a normal variation that doesn't lead to health issues.
Importance of Variants
Genetic variants can sometimes be associated with diseases, but not everyone with these variants will get sick. This is called incomplete penetrance. ClinVar helps highlight these cases, showing that just because someone has a variant, it doesn’t mean they will definitely have the related disease.
Insights from Data
Using data from various sources, ClinVar shows patterns in how genetic variants are distributed. This can help researchers find out why some people with certain genetic changes do not show symptoms of a disease, which is important for more accurate health assessments.
Conclusion
ClinVar serves as a valuable resource for understanding genetics and its connection to health, aiding in better diagnosis and management of genetic conditions.