TRPV4 c.711A>G and c.1039G>T were reported as VUS for Charcot-Marie-Tooth disease type 2C and TRPV4 c.958C>T as a variant with conflicting interpretations of pathogenicity for skeletal dysplasias, spinal muscular atrophies and Charcot-Marie-Tooth. This evidence concerns the gene TRPV4 and skeletal dysplasia.