This site provides information on hereditary cancer predisposition genes in the Spanish population. Two types of data are submitted by the Spanish genetic diagnostics laboratories: variant classifications and datasets of individual's variants (VCF files); the latter is used to compute population frequencies for each clinical suspicion, sex and laboratory. Additionally, consensus variant interpretations can be submitted from expert groups. Current database version stores ~1.2 million variants found across 4576 individuals in 241 genes. Overall, 22273 unique variants and 17351 classifications were provided by Spanish laboratories and expert groups. 11261 out of the 22273 unique variants were classified by at least one laboratory.
SpadaHC is addressed to research academics, clinical geneticists, genetic counselors and oncologists interested in germline variant interpretation. SpadaHC contains open data, available to any user, and restricted data, available to registered users from Spanish laboratories.
Each new dataset, either of individual's variants or variant classifications, produces a new version of the database:
Variant population frequencies in SpadaHC are calculated from the datasets of individuals (VCF files) submitted by the participating laboratories. The datasets are listed below:
Spanish laboratories and expert groups can submit datasets of variant classifications which are listed below:
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