NIH Genetic Testing Registry / MedGen / ClinVar
Over 429,000 Tests, Variants and Phenotypes in 100 sq. ft.
NCBI at NIH advances science and health by providing access to comprehensive medical genetics information. GTR has simplified its website to enable intuitive, streamlined pathways to locate genetic tests that fit your needs. ClinVar is a growing resource of clinical significance interpretations of sequence variation provided by submitters. MedGen is a resource about conditions with a genetic component which aggregates high-value information and maps disease nomenclatures. Get hands-on help with Wendy Rubinstein, Melissa Landrum, Adriana Malheiro and Brandi Kattman.