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In October 2009 a new enquiry service for scientists worldwide was launched, enabling scientists and clinical geneticists to enquire after variant data potentially available in the Diagnostic Mutation Database.

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The Diagnostic Mutation Database (DMuDB) repository provides a route for sharing mutation data within and between UK diagnostic laboratories to support genetic testing services for patients. Diagnostic molecular genetics laboratories in the UK analyse and report hundreds of mutations per year for a range of inherited diseases, some of them very rare. However, the mutation data that they generate are not generally added to the many online databases that exist for single or multiple genes, or reported in journal publications.

DMuDB data are centred on patient referrals and the database presently holds 11,073 referrals, which contain more than 34,342 individual variants in 43 genes.  There are 238 active users from 39 diagnostic laboratories.  BRCA variants (~27,977) and HNPCC variants (~1,654) currently predominate but the range of data is expanding.  View a list of gene data that is currently available in DMuDB.
 
DMuDB is funded by the Department of Health, and  facilities for EGFR data collection are being developed with the help of sponsorship  from AstraZeneca. The software is designed and maintained by Certus Technology.
 

Accessing the data

DMuDB is accessed through a secure website, the data can also be accessed through a graphical browser, which is the preferred method for viewing data and also allows access to other mutation databases.  Both methods require a DMuDB username and password to be obtained from the DMuDB curator.   Please note that access to the database is limited to UK professionals only.  Please read the notes on acceptable use of the repository before starting to use it.  Note that the data in the repository are to be used for supporting diagnostic work only, are confidential, and belong to the laboratory that originally submitted them. 

DMuDB data are anonymised and shared according to the Data Protection Act 1998.  They are uploaded manually (one referral at a time) by laboratories when diagnostic reports are issued, or in bulk (more than one referral at a time) by the database curator.  Sample spreadsheet for bulk upload can be downloaded here.
 

Screencasts

Submit Variants to DMuDB
Pseudonymising Patient IDs
View Data in Universal Browser
Browse for Gene Data
Filters to View Specific Referrals