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. Mutation Database CentoMD®

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

Explore CentoMD® with an individual and free demo

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CentoMD® 4.0 bridges the gap between genetic variants and clinical interpretation

With the new release, CentoMD® 4.0 offers advanced Genotype-to-Phenotype and Phenotype-to-Genotype modules, now with access to more than 4.5 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® 4.0 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

  • Clinical exome sequencing - Results from 2819 samples reflecting 1000 families

    A study was conducted using whole exome sequencing (WES) to identify underlying pathogenic variants, or likely pathogenic variants, in 1,000 diagnostic cases from 54 different countries. Patients selected displayed a wide variety in the number, nature and severity of symptoms. Clinical information given by the requesting physicians was translated to HPO terms and WES was performed on patient samples according to standardized settings.

  • A comprehensive global genotype–phenotype database for rare diseases

    "The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here, we introduce a comprehensive and global genotype–phenotype database focusing on rare diseases."

  • CentoMD®3.0 - The largest mutation database of rare diseases

    During the webinar, you will learn how CentoMD® 3.0 will become your simple five-step solution, where you easily can search, filter, select, explore and download genes, transcripts and variants and ending with a comprehensive genetic summary including all associated data tailored to your needs.

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® 4.0 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.

Schedule your free demo now

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® 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® now provides diagnostic service*, based on extensive knowledge of the genetic variants of 26 genes

Based on CENTOGENE’s extended knowledge in the area of rare genetic disorders and a dataset of variants in CentoMD®, the user can now initiate the evaluation of genetic data of his patients and receive a diagnostic report using CentoMD® diagnostic service.

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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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

How to get started and use CentoMD®


Do you have questions or need further help?

Please contact our CentoMD® support team:

E-Mail: support(at)centomd(dot)com
Phone: +49 (0)381203652-268

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