Rare genetic variants decoded

“When examining genetic variants, the decisions you have to make about best interpretation and proper treatment affect your patient’s health and medical outcome. Having all available data and information is crucial for your diagnoses.

With CentoMD® we enable you to follow all expectations and to bring the best service and highest quality to your patients.”

Prof. Arndt Rolfs, MD
Chief Executive Officer

CentoMD® 3.2 encompasses more than 115,000 of documented, curated patient cases from over 110 countries worldwide and is the world´s largest mutation database of rare diseases that bridges the gap between genetic variants and clinical interpretation

CentoMD® 3.2 offers advanced Genotype-to-Phenotype and Phenotype-to-Genotype modules, now with access to more than 3.4 million variants, including variants detected by whole exome sequencing.

Besides variant-based queries, you are able to perform symptoms-based queries based on Human Phenotype Ontology (HPO), which return potential candidate genes and associated variants underlying the symptoms of interest.

To tremendously simplify your daily patient care, CentoMD® 3.2 adds an interactive search interface: You are given the flexibility to perform searching, sorting, filtering, and access specific data contents by simple clicks; and data export functions: You can export data into read-only Excel files.

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~ 190


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> 230


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> 3500


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> +900


CentoMD® is evidence-based: behind every reported variant there is a clinical case analyzed at CENTOGENE by following a highly standardized workflow with accredited quality.

With CentoMD®, you now have a virtual encyclopedia of genetic information, allowing you to diagnose and treat rare diseases in a much more efficient, speedy and targeted manner.

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CentoMD® features a comprehensive and unique repository of genetic variants including a significant number of unpublished relevant variants from a worldwide cohort of patients

CentoMD® will be continuously updated with actual information on identified genetic variants. This will further help provide doctors and medical researchers alike with detailed, nearly real-time analysis on the overall frequency and clinical significance of the most recently observed genetic variants and mutations.

By combining precise clinical genetic information from more than 110 countries with the actual clinical patient case corresponding to that data, CentoMD® greatly expedites the medical interpretation of these variants.

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CentoMD® 3.2 is your simple five-step solution: search, select and filter through genes, transcripts and variants and end up with a detailed description including all associated data tailored to your needs.

Expert talk

“When classifiying unknown variants, every doubt needs to be confirmed or dismissed. So it’s all about facts. I have to do everything in my power to confirm with certainty whether a variant is a benign variant. Otherwise I am not doing the best job I can.”

Prof. Matthias Löhr, MD

Department of Clinical Science, Intervention and Technology
Karolinska Institute, Sweden

“It is our duty as clinicians and geneticists to strive for the most complete information. And to be sure of this, we need the clinical evidence.”

Prof. Christine Klein, MD

Institute of Neurogenetics
University of Lübeck


The world’s largest repository of genetic variants associated with detailed clinical information

Our free 14-day trial gives you access to more than 3.4 million variants, full statistics and detailed description for 5 classified and curated variants. Register now and start exploring CentoMD® without any further obligations.