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What NCBI services are available for healthcare professionals focusing on genetic diseases?

MedGen, ClinVar, and the Genetic Testing Registry (GTR®) are three interconnected NCBI databases that serve healthcare professionals as sources of medically relevant genetic information and as portals to numerous related resources:

  • MedGen provides information about human disorders and other phenotypes having a genetic component (see details)
  • GTR provides information on genetic tests offered by laboratories from across the world that they have voluntarily registered in GTR (see details)
  • ClinVar provides information about genomic variation and its relationship to human health (see details)