National Library of Medicine | NCBI Clinical Database Overview @NLMNIH | Uploaded January 2024 | Updated October 2024, 11 hours ago.
This video, part of the Bioinformatics and Biology Essentials for Librarians course from the Network of the NLM, provides an overview of three NCBI clinical databases: MedGen, ClinVar and Genetic Testing Registry (GTR). Allow pop-ups and try these yourself using the NLM Navigators:
MedGen: nlm.nih.gov/oet/ed/navigator/medgen/launch.html
ClinVar:nlm.nih.gov/oet/ed/navigator/clinvar/launch.html
GTR: nlm.nih.gov/oet/ed/navigator/gtr/launch.html

For more, see the NLM Learning Resources Database: learn.nlm.nih.gov

Key Points
MedGen: Phenotypes (diseases or conditions) and vocabulary
Terms and vocabularies from several sources (GTR, Unified Medical Language System, etc.); other data sources (OMIM, GeneReviews, Genetics Home Reference)

ClinVar: Submitted human genetic variants and their relationships to disease
Records represent assertions about phenotype associated with genetic variants
For large scale (copy number) variants, see dbVar
For small scale variants, see dbSNP
For clinically-relevant, see ClinVar
Sources include literature (OMIM), genetic testing consortia and individual labs

Genetic Testing Registry (GTR):
Submission-driven database of genetic tests (with limited NCBI curation)
Intended for clinicians
Can search and order tests