Have you assessed whether a variant is eligible for a therapeutic approach? Share the assessment with the N1C Gene Registry. This form is for variant assessments; to submit a therapy development project, use the N-of-1 projects form. For questions, write to generegistry@n1collaborative.org.
The name of your group is shown next to your assessment on the registry, the way ClinVar shows each submitter. Several groups may assess the same variant.
First, tell us whether this assessment may be shown on the public registry. The group name is public; your own name and email are not.
The condition the variant causes and the gene it sits in.
Genome build GRCh38 is used for every entry. Transcript, coding change and protein change go in separate boxes and are checked as you type.
One therapeutic modality and approach per entry. To record a second approach for the same variant, submit again or add a row in the file upload.
Please check your entry before submitting.
A copy has been sent to your email address. An N1C curator will review the entry and it will appear on the Assessed Variants page once confirmed. You can update or withdraw it at any time by replying to that email.
Please make a note of your reference number. An N1C curator will review the entry by hand and will contact you if anything is unclear; it appears on the Assessed Variants page once confirmed. To update or withdraw it, email generegistry@n1collaborative.org quoting the reference.
Something went wrong on our side, and we did not want you to lose what you typed. Please copy the text below and email it to generegistry@n1collaborative.org, and we will enter it for you.
Choose "Several assessments" at the top of the page, download the template, fill in one assessment per row and upload the file. Every row is checked and you see a summary before anything is sent.
