- 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
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.
Latest articles about Mutation Database
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.
"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."
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.
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.
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.
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