Submission

• Full Study: Create
• Full Study: Manage
• Submit Variants
• Complete Submit
• Instructions

 There are two tracks of variant data submission:

 1. Quick batch or single pathogenic variant submission:

    Login, this is required.

    Pathogenic variant submission, use VCF/HGVS input format, then manage and complete annotations per variant.

 2. Full submission with study and optional patient data:

    Login, this is required.

    Submit New Study, compatible with ClinVar’s specifications. Then upload VCF, HGVS and other supporting files.

           You may use existing study as template, then follow the step-by-step work flow.

   Optional: Submit patient information in LOVD , or Phenotips

    Pathogenic variant submission, use VCF/HGVS input format, then manage and complete annotations per variant.

 3. After submission, variants will be published according to access policy after MSeqDR review.

    Manage and complete annotations of your saved variants.

    OR: View/Edit variant in LOVD, where any user can enhance variant annotations with :

          Quick add-on annotation.

          ClinVar style full annotation.