NCBI database: clinvar

GPTKB entity

Statements (26)
Predicate Object
gptkbp:instanceOf gptkb:database
gptkbp:access open access
gptkbp:citation Landrum MJ, et al. Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067.
gptkbp:contains supporting evidence
variant interpretations
gptkbp:focusesOn human genetic variation
clinical significance
https://www.w3.org/2000/01/rdf-schema#label NCBI database: clinvar
gptkbp:launched 2013
gptkbp:maintainedBy gptkb:National_Center_for_Biotechnology_Information
gptkbp:relatedTo gptkb:GeneReviews
gptkb:OMIM
gptkb:dbSNP
gptkb:dbVar
gptkbp:type phenotypes
disease associations
genomic variants
gptkbp:updated regularly
gptkbp:usedFor research
clinical decision support
gptkbp:website https://www.ncbi.nlm.nih.gov/clinvar/
gptkbp:YouTubeChannel expert panel submissions
public submissions
clinical testing laboratories
gptkbp:bfsParent gptkb:ClinVar
gptkbp:bfsLayer 6