NIH Genetic Testing Registry/ClinVar/MedGen
The National Center for Biotechnology Information (NCBI) at NIH advances science and health by providing public access to biomedical and genomic information. Resources for medical genetics include MedGen, the Genetic Testing Registry (GTR) and ClinVar. MedGen aggregates high-value information about conditions and phenotypes and maps disease nomenclatures. GTR has intuitive, efficient pathways to locate genetic tests that fit your needs, including liquid biopsies. ClinVar is a growing resource of clinical significance interpretations of sequence variation provided by submitters.