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

CentoMD® 5.1: 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 58% have not been published

Get hints on candidate genes and related variants

Quickly search, sort and export data into an excel file

Learn how it works!

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CentoMD® 5.1 features bridge the gap between genetic variants and clinical interpretation

  • Advanced genotype-phenotype and phenotype-genotype modules: now with access to more than 7.3 million unique variants. 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 biomarker information: this unique combination standardizes and expedites the medical interpretation of disease causing variants, coming from more than 300,000 individuals located in more than 115 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 cases


Associated phenotypes


Identified alleles


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
  • 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® 5.1 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 and treat rare diseases in a much more efficient, speedy and targeted manner.

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Upon new evidence, CENTOGENE re-classifies known variants strictly following the ACMG guidelines

Frequently asked questions

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.

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 58% 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


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.

CentoMDxTM evaluates genetic data and provides a diagnostic report in three steps:

• Annotation of the variants from the uploaded VCF file

• Clear diagnostic statement based on detected pathogenic and likely pathogenic variants

• Extended individual variant interpretation, including software predictions, allele frequencies in various databases, reference to publications, related disease description and information about positive diagnosed patients analyzed at CENTOGENE

• Report storage and export functions

• User notification about any reclassified reported variants in the future

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