title: ClinVar: public archive of interpretations of clinically relevant variants.
abstract: ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific databases, OMIM®, GeneReviews™, UniProt, expert panels and practice guidelines. In NCBI's Variation submission portal, submitters upload batch submissions or use the Submission Wizard for single submissions. Each submitted interpretation is assigned an accession number prefixed with SCV. ClinVar staff review validation reports with data types such as HGVS (Human Genome Variation Society) expressions; however, clinical significance is reported directly from submitters. Interpretations are aggregated by variant-condition combination and assigned an accession number prefixed with RCV. Clinical significance is calculated for the aggregate record, indicating consensus or conflict in the submitted interpretations. ClinVar uses data standards, such as HGVS nomenclature for variants and MedGen identifiers for conditions. The data are available on the web as variant-specific views; the entire data set can be downloaded via ftp. Programmatic access for ClinVar records is available through NCBI's E-utilities. Future development includes providing a variant-centric XML archive and a web page for details of SCV submissions.
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA landrum@ncbi.nlm.nih.gov.
authors.forename: Melissa J
authors.initials: MJ
authors.lastname: Landrum
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Lee
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Mark
authors.initials: M
authors.lastname: Benson
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Garth
authors.initials: G
authors.lastname: Brown
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Chen
authors.initials: C
authors.lastname: Chao
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Shanmuga
authors.initials: S
authors.lastname: Chitipiralla
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Baoshan
authors.initials: B
authors.lastname: Gu
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Hart
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Douglas
authors.initials: D
authors.lastname: Hoffman
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Hoover
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Wonhee
authors.initials: W
authors.lastname: Jang
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Kenneth
authors.initials: K
authors.lastname: Katz
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Ovetsky
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: George
authors.initials: G
authors.lastname: Riley
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Amanjeev
authors.initials: A
authors.lastname: Sethi
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Ray
authors.initials: R
authors.lastname: Tully
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Villamarin-Salomon
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Wendy
authors.initials: W
authors.lastname: Rubinstein
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20893, USA.
authors.forename: Donna R
authors.initials: DR
authors.lastname: Maglott
mesh_terms: D030541:Databases, Genetic; D004194:Disease / Q000235:genetics*; D005796:Genes; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans