CENTOGENE's variant reclassification program

 

Lifelong commitment to patient safety 

  1. Variant reclassification program

Keeping you up-to-date with the most accurate, clear and transparent genetic information

Genetic knowledge constantly grows with new insights in disease gene associations and related pathogenic variants being detected daily.

This makes variant classification and reclassification an ongoing process that consequently can have a life-long impact on patient care & disease management.

In order to reduce the risks and harness the benefits of this rapidly increasing knowledge, we have designed a highly robust and dynamic variant reclassification program that enables us to provide you with the latest and highest quality data for the most up-to-date diagnosis. 


Advantages of our variant reclassification program

Proactive notification of every patient affected by the reclassification


Based on a unique combination of broad patient data - genetic, biochemical and clinical


Variant data derived from a large and diverse cohort of patients


Stringent data curation and validation process


Reliable diagnosis starts with a robust &
dynamic variant classification


Notifications for all patients affected by reclassification

As soon as new genetic evidence becomes available, it is shared with you. Thanks to our highly robust reclassification process, we reduce the uncertainty for patients and allow for better disease management. 

Downloads

  • Reclassification report

    Carrier testing in the NSD1 (OMIM®: 606681) gene. Reclassified from uncertain clinical significance (class 3) to likely pathogenic (class 2).

    Download

Upcoming webinar

Discover how CENTOGENE’s variant reclassification enables us to provide you with the latest and highest quality data for the most up-to-date diagnosis.

Register now

Added value of biochemical data in the classification process

CENTOGENE’s curated and classified variants in 7 metabolic genes (GAA, GBA, GLA, IDS, NPC1, NPC2 & SMPD1) were compared with ClinVar and HGMD®. The availability of biochemical data in addition to high quality clinical and genetic patient data allowed us to correctly classify variants misclassified in these databases. This prevented patients from the risk of an incorrect diagnosis or having their diagnosis missed altogether. 

Do you have more questions?

Please contact us at any time. We are happy to receive your inquiry and answer your questions.

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