ClinVar

ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. ClinVar processes submissions reporting variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar then presents the data for interactive users as well as those wishing to use ClinVar in daily workflows and other local applications.


Type Website
CME Available No
Topic
Cost Free
Note

For Genetic Counselor: Important resource to aid in genomic test interpretation. Links to several other important resources included on homepage. 


Genomic Competencies

Experts from the disciplines listed below have tagged this resource as fulfulling genomic competencies.

Pharmacist

  • Basic Genetic Concepts
    • B1:   To demonstrate an understanding of the basic genetic/genomic concepts and nomenclature
    • B3:   To identify drug and disease associated genetic variations that facilitate development of prevention, diagnostic and treatment strategies and appreciate there are differences in testing methodologies and are aware of the need to explore these differences these differences in drug literature evaluation
  • Genetics and Disease
    • G3:   To appreciate that pharmacogenomic testing may also reveal certain genetic disease predispositions (e.g. the Apo E4 polymorphism)
  • Pharmacogenetics/Pharmacogenomics
    • P1:   To demonstrate an understanding of how genetic variation in a large number of proteins, including drug transporters, drug metabolizing enzymes, direct protein targets of drugs, and other proteins (e.g. signal transduction proteins) influence pharmacokinetics and pharmacodynamics related to pharmacologic effect and drug response

Physician Assistant

  • Patient Care
    • 3:   Distinguish between genetic screening and genetic testing
    • 4:   Incorporate genetic tests into patient management
  • Medical Knowledge For Practice
    • 2:   Define the role of genetic variation in health and disease
  • INTERPROFESSIONAL COLLABORATION
    • 1:   Seek coordination and collaboration with an interprofessional team of health care professionals

Genetic Counselor

  • Genetics Expertise and Analysis
    • 1:   Demonstrate and utilize a depth and breadth of understanding and knowledge of genetics and genomics core concepts and principles.
    • 4:   Identify, assess, facilitate, and integrate genetic testing options in genetic counseling practice.
    • 7:   Critically assess genetic/genomic, medical and social science literature and information.