Overall, there were six variants that were classified as pathogenic by two or more submitters within NCBI ClinVar database, including variants in MSH6 (associated with Lynch Syndrome), MUTYH (associated with Colorectal adenomatous polyposis), NTRK1 (associated with medullary thyroid cancer), SDHD (associated with Paraganglioma-pheocromocytoma syndrome), and TSC1 (associated with Tuberous Sclerosis) (Supplementary Table S3). Here, MSH6 is linked to tuberous sclerosis.