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.

Prof. Arndt Rolfs, MD

Chief Executive Officer

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  1. CentoMD® Mutation Database

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Diagnostic service*

*Not yet offered in the US

The world´s largest mutation database of rare diseases

All data is based on clinically diagnosed individuals worldwide

All variants are evaluated following the ACMG guidelines

Search, sort, filter and access specific data by simple clicks

Get hints on candidate genes and related variants

Export data into excel file

Explore 58% of not yet published detailed variants

Watch the video to get an overview

If you can´t see the video on Youtube, click here to watch it.

CentoMD® 4.2 bridges the gap between genetic variants and clinical interpretation

With the new release, CentoMD® 4.2 mutation database offers advanced Genotype-to-Phenotype and Phenotype-to-Genotype modules, now with access to more than 6.2 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 simplify your daily patient care, CentoMD® 4.2 now adds an interactive search interface: You are given the flexibility to perform searching, sorting, filtering, and accessing specific data contents by simple clicks; and data export functions: You can export data into read-only Excel files.

Downloads for CentoMD®

Latest articles about Mutation Database

Your genetic guide to find the missing pieces of information

As knowledge on variant frequencies dramatically increases constantly, reevaluation of variants is a critical step in improving our understanding towards the genetic basis of disease pathogenicity. To solve this problem, CENTOGENE came up with a solution and created CentoMD®. CentoMD® is the world´s largest mutation database of rare diseases that includes

  • Detailed clinical information with clear information on rationales for variant classification
  • Curated individual details
  • Variant statistics and quality
  • 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
  • Frequency of the positive individuals in-house
  • Allele frequency

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.


Analyzed cases


Associated phenotypes


Identified alleles


Unique variants

CentoMD® 4.2 is your simple five-step 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 and treat rare diseases in a much more efficient, speedy and targeted manner.

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CentoMD® follows the ACMG guidelines for variant classification

Keeping quality in mind, CentoMD® follows the ACMG guidelines and internal high level quality criteria for variant classification. Adding further to the quality, CentoMD® includes additional categories for the disease associated variants and the genetic modifiers. By combining precise clinical genetic information from more than 115 countries with the actual clinical patient case corresponding to that data, CentoMD® mutation database is updated routinely on a quarterly basis and a constant reevaluation of variants is being carried out in-house exclusively. Importantly, CentoMD® subscribers are personally notified about these changes. The comprehensiveness of genetic information available on CentoMD® makes it the best available resource for clinicians allowing critical decision making for patients.

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 115 countries with the actual clinical patient case corresponding to that data, CentoMD® greatly expedites the medical interpretation of these variants.

CentoMD®: Variant interpretation made easy

  • Access systematically standardized annotated genetic mutations/variants
  • Empower your interpretation of complex genetic results with 58% of unpublished, clinical relevant variants
  • Individualize and accelerate your clinical interpretation with straightforward queries by variant(s)
  • Understand the clinical relevance of worldwide genetic variants


CentoMD® provides strictly anonymized annotations of variants detected in consented individuals who were referred for genetic testing by their physicians in order to evaluate whether they are affected by or are carriers of mutations which cause rare hereditary diseases.

CentoMD® is a holistic database that combines phenotype and genotype information. This means that every variant reported in CentoMD® is annotated based on at least one clinically described individual analyzed at CENTOGENE AG through a standardized and accredited workflow. CentoMD® database provides two modules, Genotype to Phenotype and Phenotype to Genotype, which assist the users to evaluate 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, update and review of genetic and phenotypic data of individuals genetically analyzed at CENTOGENE AG into a structured and standardized format. It utilizes a combination of computer-based tools and manual review in order to assure the accuracy of the data and the efficiency of the curation process. To provide high-quality data, the curation process at CENTOGENE AG involves a three-step procedure, which is described in the Handbook available for download.

A detailed user guide gives instructions for the proper use of CentoMD®, describing how

to signup, how to manage your account, and how to query, access, retrieve information.

Yes, all your activated variants are stored on your user profile. Under the header “My

exports” a list of all activated variants is available.

In CentoMD® only variants with the quality status “classified and curated” that are clinicall relevant or uncertain according to their classification in CentoMD® are available for activation. They can be recognized by the red “Activate” button. All information provided in CentoMD® for variants not available for activation can be seen directly in the variant table.

CENTOGENE AG will provide quarterly releases of updated CentoMD®.

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 AG’s mutation database, CentoMD® {release}. CENTOGENE AG, Rostock,

Germany, {date}. World Wide Web URL:

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


Phone: +49 (0)381 80113-423 (Monday to Friday, 8am to 5pm)


CentoMDx™ diagnostic service

Diagnosing a patient with a rare disease is a complex task because not all existing genetic variants have been described or precisely annotated. Medical professionals need to obtain all available knowledge about the detected genetic variants in a patient in order to establish a possible most accurate diagnosis.

CentoMDx™ is a device that compares the genetic information after sequencing from the uploaded file with the dataset gathered from genetic tests conducted at CENTOGENE AG and, consequently, provides the diagnostic report with detailed information about the detected genetic findings.

Generating your report with minimum effort and time

Every report generated by CentoMDx™ requires minimum effort and time from the user in order to provide the diagnosis based on the logic originated from and supported by extensive knowledge of the genetic variants of the 26 genes stored in CentoMD®.

The diagnostic statement in the report provides information on the presence of a disease based on detected pathogenic and likely pathogenic variants taking in account mode of inheritance of the disease as well as gender of the patient.

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Do you have questions or need further help?

Please contact our support team:

E-Mail CentoMD®: support(at)centomd(dot)com
E-Mail CentoMDx™: support(at)centomdx(dot)com
Phone: +49 (0)38180113-416

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