title: Using ClinVar as a Resource to Support Variant Interpretation.
abstract: ClinVar is a freely accessible, public archive of reports of the relationships among genomic variants and phenotypes. To facilitate evaluation of the clinical significance of each variant, ClinVar aggregates submissions of the same variant, displays supporting data from each submission, and determines if the submitted clinical interpretations are conflicting or concordant. The unit describes how to (1) identify sequence and structural variants of interest in ClinVar by multiple searching approaches, including Variation Viewer and (2) understand the display of submissions to ClinVar and the evidence supporting each interpretation. By following this protocol, ClinVar users will be able to learn how to incorporate the wealth of resources and knowledge in ClinVar into variant curation and interpretation.
authors.affiliation: Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
authors.forename: Steven M
authors.initials: SM
authors.lastname: Harrison
authors.affiliation: Geisinger Health System, Danville, Pennsylvania.
authors.forename: Erin R
authors.initials: ER
authors.lastname: Riggs
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Rockville, Maryland.
authors.forename: Donna R
authors.initials: DR
authors.lastname: Maglott
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Rockville, Maryland.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Lee
authors.affiliation: Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
authors.forename: Danielle R
authors.initials: DR
authors.lastname: Azzariti
authors.affiliation: National Human Genome Research Institute, National Institutes of Health, Rockville, Maryland.
authors.forename: Annie
authors.initials: A
authors.lastname: Niehaus
authors.affiliation: National Human Genome Research Institute, National Institutes of Health, Rockville, Maryland.
authors.forename: Erin M
authors.initials: EM
authors.lastname: Ramos
authors.affiliation: Geisinger Health System, Danville, Pennsylvania.
authors.forename: Christa L
authors.initials: CL
authors.lastname: Martin
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Rockville, Maryland.|These authors contributed equally to this work.
authors.forename: Melissa J
authors.initials: MJ
authors.lastname: Landrum
authors.affiliation: Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.|Harvard Medical School, Boston, Massachusetts.|These authors contributed equally to this work.
authors.forename: Heidi L
authors.initials: HL
authors.lastname: Rehm
mesh_terms: D030541:Databases, Genetic; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans
keywords: ClinVar; clinical genetics; data sharing; databases; variant interpretation