Correction to: European Journal of Human Genetics https://doi.org/10.1038/s41431-024-01631-w, published online 28 May 2024
There was a missing information in the Supplementary Table S2, cell W180, the variant “c.1959del” attributed to foetus 179 should have been “c.1959_1960del”.
The latter corresponds to the proteic nomenclature “p.(Gly654Leufs*2)” and the LOVD DB-ID “TSC2_001185” correctly reported for this foetus. The correct variant was already reported in ClinVar, but this information was missing in Table S2, and the variant should therefore be classified as Pathogenic (ACMG class 5) rather than Likely Pathogenic (ACMG class 4). The mistake was reproduced in the VariantValidator result file, entitled “Related manuscript file”. Please find attached the corrected versions of both files.
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Milon, V., Malinge, MC., Blanluet, M. et al. Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature. Eur J Hum Genet (2024). https://doi.org/10.1038/s41431-024-01658-z
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DOI: https://doi.org/10.1038/s41431-024-01658-z