2018 | Melissa J. Landrum, Jennifer M. Lee, Mark Benson, Garth R. Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jiang, Karen Karapetyan, Kenneth Katz, Chunlei Liu, Zenith Maddipatla, Adriana Malheiro, Kurt McDaniel, Michael Ovetsky, George Riley, George Zhou, J. Bradley Holmes, Brandi L. Kattman and Donna R. Maglott
ClinVar is a public database maintained by the National Institutes of Health that archives human genetic variants and their interpretations of clinical significance. It is used by clinical testing laboratories, research labs, expert panels, and other groups to submit variant interpretations. ClinVar aggregates data by variant-disease pairs and by variant, and provides access to this data through its website, improved variant call format (VCF) files, and a new comprehensive XML report. ClinVar has recently started accepting submissions focused on providing phenotypic information for individuals who have undergone genetic testing, including submissions from clinical providers and patient registries.
ClinVar continues to improve its search and retrieval functions, with new fields indexed for more precise searching and filters to narrow down search results. The database includes over half a million submitted records, representing more than 331,000 variants. ClinVar includes both sequence and structural variants, with over 15,000 variants exceeding 1 kilobase. More than 800 organizations from 60 countries submit to ClinVar, including 76 laboratories that provide interpretations from direct clinical testing.
ClinVar now uses VCV accession numbers for variant-centric data, which are versioned to retain a history. These numbers are accessible in variant-centric XML files and are accompanied by a complementary file of deleted VCV accessions. New VCF files are allele-centric and use the ClinVar Variation ID as the identifier, making it easier to review data in the VCF file relative to the web display. These files include all variants in ClinVar with a precise genomic location and include both directly interpreted and included variants.
ClinVar also provides improved search functionality, including the ability to search by date of last evaluation, gene HGNC_IDs, HPO IDs, and other filters. These improvements help users find variants based on clinical significance, review status, allele origin, method type, molecular consequence, variation type, variant length, and variant-gene relationship. ClinVar continues to support users by providing a centralized database for sharing variant interpretations and supporting evidence, and is committed to improving access to variant-centric data and enhancing the database's search function. Future challenges include automating the submission process and addressing outdated or legacy submissions. ClinVar welcomes feedback and input from users on these topics.ClinVar is a public database maintained by the National Institutes of Health that archives human genetic variants and their interpretations of clinical significance. It is used by clinical testing laboratories, research labs, expert panels, and other groups to submit variant interpretations. ClinVar aggregates data by variant-disease pairs and by variant, and provides access to this data through its website, improved variant call format (VCF) files, and a new comprehensive XML report. ClinVar has recently started accepting submissions focused on providing phenotypic information for individuals who have undergone genetic testing, including submissions from clinical providers and patient registries.
ClinVar continues to improve its search and retrieval functions, with new fields indexed for more precise searching and filters to narrow down search results. The database includes over half a million submitted records, representing more than 331,000 variants. ClinVar includes both sequence and structural variants, with over 15,000 variants exceeding 1 kilobase. More than 800 organizations from 60 countries submit to ClinVar, including 76 laboratories that provide interpretations from direct clinical testing.
ClinVar now uses VCV accession numbers for variant-centric data, which are versioned to retain a history. These numbers are accessible in variant-centric XML files and are accompanied by a complementary file of deleted VCV accessions. New VCF files are allele-centric and use the ClinVar Variation ID as the identifier, making it easier to review data in the VCF file relative to the web display. These files include all variants in ClinVar with a precise genomic location and include both directly interpreted and included variants.
ClinVar also provides improved search functionality, including the ability to search by date of last evaluation, gene HGNC_IDs, HPO IDs, and other filters. These improvements help users find variants based on clinical significance, review status, allele origin, method type, molecular consequence, variation type, variant length, and variant-gene relationship. ClinVar continues to support users by providing a centralized database for sharing variant interpretations and supporting evidence, and is committed to improving access to variant-centric data and enhancing the database's search function. Future challenges include automating the submission process and addressing outdated or legacy submissions. ClinVar welcomes feedback and input from users on these topics.