Finding the Missing Pieces of Information


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.


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CentoMD® 6.0: The World´s Largest Mutation Database of Rare Diseases, at your Fingertips

All data is based on clinically diagnosed individuals worldwide

All variants are evaluated following the ACMG guidelines

Explore clinically relevant variants, of which 65% have not been published

Get hints on candidate genes and related variants

Quickly search, sort and export data into an excel file

CentoMD® 6.0 features bridge the gap between genetic variants and clinical interpretation

  • Advanced genotype-phenotype, phenotype-genotype, and biochemistry modules: now with access to more than 31 million unique variants and biomarkers, as well as enzyme activity assay screening results. 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.
  • Combining precise clinical genetic and phenotype information: this unique combination standardizes and expedites the medical interpretation of disease causing variants, coming from more than 465,000 individuals located in more than 120 countries.
  • Annotation of genetic variants contained in a vcf file: you can upload a batch of variants included in a VCF file and in turn retrieve clinical significance for the variants detected in individual all at once.

  • An interactive search interface: you are given the flexibility to perform search, sort, filter, and data export functions, all with a simple click.

  • Data export functions: you can export data into a read-only Excel file.

CentoMD® is evidence-based


Analyzed patients


Associated phenotypes


Unique variants

What type of information you can find in CentoMD®

  • Detailed clinical information with clear information on rationales for variant classification
  • Curated individual details
  • Transcript examined
  • Genetic location
  • Protein change
  • Type of mutation/variation
  • Coding effect
  • Sample type
  • Analytical method
  • Type of single nucleotide polymorphism
  • Clinical significance
  • Publication status
  • Biochemical analysis
  • Allele frequency

CentoMD® 6.0 is your simple solution

Search, select and filter the genes, transcripts or the variants for a detailed description including all associated data tailored to your needs.

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

Schedule your free demo now

Frequently asked questions

CentoMD® provides de-identified annotations of variants detected in individuals who were referred for genetic testing by their physicians to evaluate whether they are affected by or are carriers of variants that cause rare hereditary diseases. CentoMD® is a comprehensive database that combines phenotype and genotype information. Every variant reported in CentoMD® is annotated based on at least one clinically described individual analyzed through a standardized and accredited workflow at CENTOGENE. CentoMD® provides three modules: Genotype to Phenotype, Phenotype to Genotype, and VCF Upload, which assist users in evaluating the correlation between genetic and phenotypic information. Please see the Handbook for a comprehensive description of the data provided by CentoMD®.

Curation is the process of collection, association, and review of genetic and phenotypic data for individuals analyzed at CENTOGENE into a structured and standardized format. It utilizes a combination of computer-based tools and manual review to assure the accuracy of the data and the efficiency of the curation process. To provide high-quality data, the curation process at CENTOGENE involves a three-step procedure, which is described in the Handbook and is available for download.

A detailed user guide provides instructions for the proper use of CentoMD®, including how to signup, how to manage your account, and how to query and retrieve information.

Yes, all of your activated variants are stored on your user profile. Under the header “My exports”, a list of all activated variants is available.

If you wish to reference CentoMD®, it is important to include the current release number because the annotation class of the variant you are referring to may change over time due to additional evidence. The release number allows you to distinguish between previous and current versions of CentoMD®.

Please refer to CentoMD® in the following way:

CENTOGENE's mutation database, CentoMD® 6.0. CENTOGENE GmbH, Rostock, Germany, {date}. World Wide Web URL:

CentoMD® has been tested to work with the latest versions of all major browsers (Microsoft Edge, Chrome, and Firefox) that support HTML5. Previous versions of these browsers from the last two years should also work as expected.

CentoMD® offers comprehensive user support to answer questions regarding the scientific content of CentoMD®, your individual contract, as well as IT-related issues. User support is available via e-mail.


CentoMD® requires browsers to allow a cookie (a small piece of data) to be stored on your system. If you see an error message asking you to enable cookies for this website, please change your browser settings to allow this for CentoMD® or ask your administrator for help.

CentoMD® requires JavaScript to be executed on your computer, for example, to show statistics plots. If you see an error message asking you to enable JavaScript, please change your browser settings to allow this for CentoMD® or ask your administrator for help.

CentoMD®: Variant interpretation made easy

  • Access systematically standardized annotated genetic mutations/variants
  • Empower your interpretation of complex genetic results with detailed, clinically relevant variants, of which 65% have not been published
  • Individualize and accelerate your clinical interpretation with straightforward queries by variant(s)
  • Understand the clinical relevance of worldwide genetic variants
  • Mutation database is updated routinely on a quarterly basis
  • Stay up-to-date with notifications of re-evaluated variants carried out on a quarterly basis


CentoMD® Tutorial: How to use the Genotype to Phenotype module

CentoMD® Tutorial: How to use the Phenotype to Genotype module

CentoMD® Tutorial: How to use the VCF module

Do you have questions or need further help?

Please contact our support team:

Email: support(at)centomd(dot)com

Get in touch with our Business Development team

We are happy to receive your enquiry