CeGaT Is One of the Most Active Contributors to the ClinVar Archive

December 19, 2023

With over 85,000 submitted clinical evaluations of variants, CeGaT is among the world’s top 5 contributors to the ClinVar public database, significantly expanding the collective knowledge of genetic variants and improving the genetic diagnosis of rare diseases.

ClinVar, the largest public database for genotype-phenotype relationships, now comprises over 3 million submitted data sets from around 2,700 institutions and companies. CeGaT has positioned itself as one of the most significant contributors, with over 85,000 submitted variant interpretations, and is currently ranked fifth. This makes CeGaT the only European company in the top 10 and one of the world’s most significant contributors to evaluating and submitting genetic information to ClinVar.

CeGaT’s contribution to the reliable interpretation of genetic variants

With ongoing participation in initiatives such as ClinVar, CeGaT is committed to accelerating the research and diagnostic process for rare genetic diseases. The data provided helps clarify genetic variants’ disease relevance and improve the data situation for evaluation. This increases the quality and usefulness of the data and advances the collective knowledge of genetics.
In addition, CeGaT’s involvement in ClinVar has led to a significant increase in requests for collaboration from researchers worldwide. Together with other scientists, CeGaT is actively working to decipher genetic correlations. This commitment empowers the research community and benefits clinical laboratories and patients worldwide.

ExomeXtra® with current data from ClinVar and HGMD

CeGaT not only transmits variants to ClinVar but also uses the information collected in the database for its own exome diagnostics: CeGaT’s ExomeXtra® comprises all non-coding variants classified as pathogenic or probably pathogenic from ClinVar and the Human Gene Mutation Database (HGMD). With the current update ExomeXtra® version 5, the number of intronic and intergenic variants has been increased to more than 38,000. This means that CeGaT’s ExomeXtra® covers all areas of the genome listed as disease-relevant in these databases.

Further information on CeGaT’s exome diagnostics can be found here.

ClinVar: Data collection of clinically relevant variants

ClinVar is a central public database that catalogs the relationships between genetic variants and their effects on health status. The National Center for Biotechnology Information (NCBI) operates and regularly updates the database. Researchers and doctors use the archive not only to evaluate variants but also to make newly identified variants publicly accessible. This way, knowledge about possible pathogenicity classifications of new and already known variants is exchanged.