DEAFNESS VARIATION DATABASE

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DVD v6.1 is now available!
Please note that the DVD versioning jumped from Version 3.x to Version 6.x. This decision was made in order to keep the major versioning consistent with the OtoSCOPE® platform.

The Deafness Variation Database is continually curated. This version represents our most recent interpretation of these data and supersedes all previous versions of the DVD and variant calling as reported in Shearer AE et al (Am J Hum Genet. 2014 Oct 2;95(4):445-53).

The Molecular Otolaryngology & Renal Research Lab (MORL) Deafness Variation Database (DVD) provides a comprehensive guide to genetic variation in genes known to be associated with deafness. It includes all known genetic variants present in any gene that is included on OtoSCOPE®, the MORL’s comprehensive genetic deafness screening platform. This facilitates variant analysis.

The data in the MORL DVD are based on publicly available data and data from OtoSCOPE®. The DVD also incorporates phenotypic information from the AudioGene machine-learning based audiometric profiling tool.

The goal of the DVD is to collate and annotate every variant in every deafness gene. The sources of all DVD variants can be found here.

DVD categorization is based on the following criteria:

Benign
Previously reported benign variants or variants with MAF ≥ 0.005 (Note: There are gene-specific exceptions to this rule including alleles of GJB2, PCDH15 and SLC26A4.)
Likely benign
Classified as such by MORL, ClinVar, and/or literature when available; otherwise prediction-based
Likely pathogenic
Classified as such by MORL, ClinVar, and/or literature when available; otherwise prediction-based
Pathogenic
Previously reported pathogenic variants
Variant of unknown significance (VUS)
All variants that do not fall into one of the above categories

This categorization is specific for non-syndromic hearing loss only and may not be applicable to other diseases or conditions. All categorizations noted with an asterisk (*) reflect changes made by the curators of DVD based on MAF as described in the following publication:

Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, et al. Utilizing ethnic-specific differences in minor allele frequency to re-categorize reported pathogenic deafness variants. Am J Hum Genet 2014.

The DVD was built using the freely available Cordova variation database management software which is described in the following publication:

Ephraim SS, Anand N, DeLuca AP, et al. Cordova: Web-based management of genetic variation data. Bioinformatics 2014.

The DVD is updated regularly. If you would like to add a gene or variant to the database, please contact us.

These data are freely available. When including information from the DVD in publication, please cite this URL and the date accessed. All content is copyrighted by the MORL at The University of Iowa.

To view or utilize this site, you must agree to the citation policy above.