According to the literature, molecular testing for TSC1 and TSC2 in individuals with a clinical suspicion of TSC yields a pathogenic variant detection rate of 75-90% in different countries (Au et al., 2007; Northrup et al., 2013; Rosset et al., 2017; Reyna-Fabián et al., 2020; Rosengren et al., 2020; Alsowat et al., 2021; Meng et al., 2021). Here, TSC1 is linked to tuberous sclerosis.