ClinGen

Clinical Genome Resource

Registration service that provides unique, de-duplicated identifiers for genetic variants

Allele Registry

Repository of expert curated variant interpretations, with variant level evidence used by ClinGen Variant Curation Expert Panels (VCEPs) for interpreting variants

Evidence Repository

Service that applies the ACMG/AMP guidelines to arrive at variant pathogenicity interpretations

Variant Pathogenicity Calculator

Facilitating curation of gene-disease pairs, generate evidence based curation summary reports with semi-quantitative scores for pairs of outcomes and interventions

Clinical Actionability Curation interface

Web service infrastructure to aggregate links and select data from several external sources for different types of entities such as genes, variants, etc.

ClinGen Linked Data Hub (beta release)

Service that evaluates clinical significance of CNV gains and losses

CNV Interpretation Calculator