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Type of variant found. 13/18 (72%) participants had a disease‐causing variant found on testing. There were 3 previously missed heterozygous variants (16.5%), consisting of 2 TSC1 and 1 TSC2 variant. There were 10 mosaic variants (55.5%), consisting of 1 TSC1 and 9 TSC2 variants. 5 individuals (28%) had no disease‐causing variants found. Het, heterozygous; NMI, no mutations identified.
