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

CanVar-UK provides comprehensive germline variant data for over 1.1 million SNVs in 116 cancer susceptibility genes, supporting consistent interpretation across clinical settings.

• Why it matters: Accurate classification of germline variants in cancer susceptibility genes is critical for patient diagnosis and family risk assessment, but current data sources are fragmented, hindering consistency.
• What they did: The platform integrates diverse data, including in silico scores, population frequencies, case counts, functional datasets, and consensus classifications, accessible to over 1,500 registered users globally.
• The result: CanVar-UK enhances clinical workflows by enabling real-time communication and data sharing among diagnostic scientists, facilitating more reliable variant interpretation and improved patient care.