International resource of curation activities, including assessment of gene-disease validity, variant pathogenicity, and dosage sensitivity.
Collaborative platform for evidence-based gene and panel curation that supports best practice in clinical diagnostic genomics.
Catalogue of human genes and genetic disease phenotypes, including information on all known mendelian disorders and over 16,000 genes.
International database of genomic variants in humans from large-scale sequencing projects, including population frequencies.
International database of genomic variants in human diseases, with classifications and supporting evidence.
International database of published gene variants in human diseases.
Australian sharing platform and database of genomic variants in human diseases identified by Australian clinical genetic testing laboratories, with classifications and supporting evidence.
Database of variants in cancer predisposition genes.
Australian database of genomic variants in multicultural Australian communities, including population frequencies.
International repository for multiplexed assays of variant effect, providing functional data on genomic variants for variant interpretation and research.
Bioinformatics tool for visualising and assessing genomic variants.
International database of genomic variants and phenotypes used for visualising and assessing genomic variants.
