Database resources for interpretation of gene variants
| Resource | Information | Website |
| CardioClassifier | Interactive web tool supporting disease-specific interpretation of gene variants associated with inherited heart disease. | https://www.cardioclassifier.org/ |
| Clinical Genome Resource (ClinGen) | A National Institutes of Health-funded central resource to define the clinical relevance of genes and variants used in medicine and research. Genetic data are curated by disease-specific expert groups to apply standardised criteria to variant classification. | https://clinicalgenome.org |
| ClinVar | A National Center for Biotechnology Information resource that aggregates information from clinical and research-based genetic testing and its relationship to human health. Variant classification is standardised in collaboration with ClinGen. | https://www.ncbi.nlm.nih.gov/clinvar/ |
| Genome Aggregation Database (gnomAD) | Investigator-led coalition to aggregate and harmonise exome and genome sequencing results from large-scale projects and provide summary to the scientific community. Granular information regarding the frequency of specific genetic variants in specific racial populations provides key insights into whether variants are likely to be pathogenic or whether they are too common to plausibly be disease-causing. | https://gnomad.broadinstitute.org |