NIH Genetic Testing Registry / ClinVar / MedGen
Meet the Medical Genetics and Human Variation group at NCBI.
The National Center for Biotechnology Information (NCBI) at NIH advances science and health by providing access to biomedical and genomic information. The Medical Genetics and Human Variation group encompasses such resources as:
· NIH Genetic Testing Registry (GTR)
· dbGaP, dbMHC, dbRBC
· Variation reporter
· Medical Genetics Resources.
Visit us to see what’s coming in 2017, including increased access to high-value information on genetic conditions, disease nomenclatures, clinical and research genetic testing, pharmacogenetics and variation with medical implications.
Learn more about one of NCBI’s flagship resources, ClinVar, which houses over 268,000 unique variants and clinical significance interpretations of such variations. We can demonstrate how to efficiently use ClinVar, ways to incorporate the data into clinical care, and how to submit new variation.
Explore some of the ways we are incorporating cancer and somatic information into our resources. Get hands-on help with several of our onsite medical genetics staff.