These recommendations for the standardization of interpretation and reporting of sequence variations identified in the course of providing clinical laboratory services are intended (1) to provide a framework for the interpretation and reporting of such test results, and (2) to aid referring clinicians by educating them as to possible testing outcomes so that they may inform their patients and families appropriately.

In surveying the 16 reports presented in this special HUGO Mutation Database Initiative (MDI) issue of Human Mutation, one is struck by the unity of purpose evident. Over 55 scientists from around the globe have invested much time and effort into presenting, for the medical genetics community, useful articles covering issues crucial to promoting the mission of the MDI. The overall goals of the MDI are to facilitate communication between curators of locusspecific mutation databases (LSDBs) and encourage their integration into a system which allows computer access to up-to-date lists of mutations in human genes.