Diagnostic Mutation Database

[1] Log in [1]

DMuDB statistics [2] Sample Spreadsheet [3] Data de-identification [4] Request new account [5] Acceptable Use Policy [6] User Manual [7] [pdf 0.9MB]

The Diagnostic Mutation Database (DMuDB) was established in 2005 by NGRL as a repository of diagnostic variant data, to support the diagnostic process in UK genetic testing laboratories. NGRL developed DMuDB in response to a need amongst UK laboratories for an easy and secure way to share variant data in order to support the interpretation of new variants and improve the quality and consistency of diagnoses. Access to DMuDB has now been extended to non-UK laboratories through a partnership with EMQN. 

Subscribe to DMuDB through EMQN > [8]
 
DMuDB holds data for all genes that have been submitted by participating laboratories. New genes and variants are added on a weekly basis. For an overview of the database contents see the DMuDB statistics [2] (updated monthly).
 

DMuDB enquiry service

Non-members can enquire about variant data that are potentially available in the Diagnostic Mutation Database through our online enquiry form [9].
 

Access to DMuDB

Access to DMuDB is limited to healthcare professionals involved in the interpretation of genetic test data for the diagnosis of patients. You must be an EMQN member to subscribe to DMuDB – see the EMQN catalogue [10]for details. Terms and conditions for use of the database are described in the Acceptable Use Policy [6].

Subscription charges are €275 per laboratory per year.

DMuDB is accessed through a secure website [1], and DMuDB data can be browsed through the NGRL’s Universal Browser [11], which allows users to view variant data from multiple databases in one graphical view.
 

New developments

NGRL is currently engaged in a project to develop DMuDB to collect EGFR variant data, along with follow-up patient treatment and response data. AstraZeneca has provided a sponsorship for this independent Programme.
 

Contact

For more information about DMuDB please contact us [12].