Submit Variant

The new variant registry requires users to register as submitters in order to submit new variant and patient data to VWFdb. Details on how to register as a submitter are given below. If you are already registered as a submitter log in to your account.

Before entering a variant submitters are requested to ensure that the variant nomenclature is accurate using the Mutalyzer tool (Wildeman et al., 2008). VWFdb currently uses NCBI genomic accession number NG_009072.1 and transcript accession number NM_000552.3 as reference sequences. Legacy data previously reported on the old mutation and polymorphism registries has been transferred to the new variant registry and does not require resubmission.

For submission of variants previously reported in the variant registry click the 'Using an existing variant' button in the 'Sequence variant data' section. In the resulting window enter the variant name (e.g. c.2561G>A) and press 'Review variant data'. The variant submission form will be filled out automatically; just review all the fields and click 'Add variant data' when satisfied. VWFdb encourages multiple submissions of the same variant because this can provide useful information concerning variant prevalence and phenotypic variability (when combined with patient data). For submission of variants not previously reported in the variant registry click the 'Add variant data' button and fill out the empty variant submission form. Please note: homozygous variants can be highlighted by selecting 'Both (homozygous)' from the 'Variant allele' field when submitting.

Once variant data has been added it will appear in a submission overview. Further variant data can be added at this stage or alternatively variant data can be removed by clicking the small red mark to the right of the variant entry.

Data can only be added for one patient per submission. To add variant data for a new patient click the 'Add new patient data' button. To add variant data to an existing patient click the 'Add new variant to patient' link below the specific patient data table in the detailed view.

Once data has been submitted for a patient and at least one variant in the patient the submission can be finalised. Finalised submissions undergo curation by the database manager before appearing on the variant registry.

Registering as a new submitter

In order to register as a new submitter users are required to fill out a simple online form. Submitter accounts can be created to allow multiple individuals to submit from a particular centre. When registering as a new submitter add an e-mail address for each individual in the 'Email address(es)' field (one e-mail address per line). Alternatively, to add additional individuals to an existing submitter account click the 'Your account' link on the top right side of the page once logged in and select the 'Update your registration' link below the data table and complete the form. All e-mail addresses associated with a submitter account will receive an account update. Please note: It is important that submitter accounts be kept up to date because the details will be listed under the 'Submitter' tab on the variant registry and all e-mail addresses associated with an account will receive copies of submission information.

This page is maintained by Dan Hampshire
Department of Cardiovascular Science, University of Sheffield