Reporting at CENTOGENE

Actually, ACMG guidelines defines five classes regarding a Mendelian variant: pathogenic, likely pathogenic, uncertain likely benign and benign (class 1-5). Frequency of the variant, in silico predictions, conservation and published data with clinical information, segregation data or functional analyses etc. have all be to evaluated to classify the variants to the best of the available knowledge at the time of reporting.

As knowledge on variant frequencies dramatically increases year by year, reevaluation of variants is an important step in improving our understanding of disease pathogenicity etc. To strengthen this decisive topic CENTOGENE has created CentoMD® a publicly available mutation database that includes e.g. detailed clinical information, frequency, ethnic background etc. The depth of available information in CentoMD® allows for some variant a pathogenicity call only when CentoMD® is used. This is the basis for the updated classification system CENTOGENE is using, adding class 0 and class 6-7 to the standard ACMG classes. The new categories improves significantly the quality of the process.

Thorough uniform and comprehensive classification of variants based on a highly qualified and standardized curation workflow are hallmarks for the reporting at CENTOGENE. Such an approach guarantees you the best classification and basis for clinical interpretation of newly identified variants, and also ensures that changes in variant classification will be communicated by reclassification reports.

If you have any questions, don´t hesitate to contact us. Our experts would be delighted to help you.