The NCBI LOVD site has been retired. All data are being migrated to ClinVar.

The NCBI LOVD site was retired on September 30, 2016. All data are being migrated to their new home at ClinVar, where they will be curated and integrated with other assertions of relationships between genotype and phenotype. More information about ClinVar can be found at https://www.ncbi.nlm.nih.gov/clinvar.

All data from the NCBI LOVD site have been archived and are available for download at ftp://ftp.ncbi.nih.gov/variation/archive/NCBI_LOVD in a tab-delimited, plain text format that can be parsed by the user or uploaded directly to another LOVD 2.0 instance if needed.

Please submit new variation and patient data to ClinVar. Visit https://www.ncbi.nlm.nih.gov/clinvar/docs/submit/ for submission instructions. ClinVar's Submission Wizard may also help facilitate the process.

Please direct any questions regarding retirement of the NCBI LOVD site to the NIH Help Desk.