We also assessed the interpretation of the molecular findings in the clinical context, specifically in the case of frontotemporal dementia and skeletal features due to a specific VCP variant (Case 2 in 2022) - here 8 of 37 (21.6%) laboratories failed to make a clear correlation between the observed skeletal features in the patient with the presentation of VCP-linked Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1. This evidence concerns the gene VCP and frontotemporal dementia.