Register Variants

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This registration process is currently open for submissions from the United States and Canada. Please check back soon to register a variant associated with a patient located outside of the United States and Canada, as this registration process will expand to allow for registration from additional regions soon.

    This registration process is currently not open for Outside United States/Canada.

    Are you submitting variant information about yourself, or on behalf of someone else?

    For parents/caregivers:

    Registration of a variant from your minor child or a patient for whom you serve as legal guardian is not yet available. Please check back soon.

    Registration is not yet available for patients under 18. When it becomes available, please complete the process with your parent or guardian, who can submit information on your behalf. Please check back soon.

    Personal Information


    Clinician Information

    File Submission

    Please submit a signed Patient Consent Form. We have provided this patient consent form for your use. If you have already received patient consent that allows you to register the patient's variant in the Rare Disease Genes database, please provide that signed consent form instead. Please consult the terms of the patient consent form provided here to ensure that you understand how the database will use and store the information submitted before submitting an alternate patient consent. For more information about our practices and your rights, please visit

    Patient Consent Form

    Please fill out the template/example file below and submit it to Document section below.

    Terms and Conditions

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