CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes.

CanVar-UK provides access to over 1.1 million germline single-nucleotide variants in 116 cancer susceptibility genes to support variant interpretation.

• Why it matters: Accurate and consistent classification of germline variants in cancer susceptibility genes is crucial for cascade testing across families and geographies, but requires diverse data sharing and integration.
• What they did: The platform collates variant-level data from multiple sources, including in silico tools, population frequencies, functional datasets, and clinical classifications, and offers a diagnostic discussion forum for registered users.
• The result: CanVar-UK is widely used by NHS and international diagnostic scientists, demonstrating its utility in clinical workflows for germline variant interpretation and enabling real-time community engagement.