SEC63 and kidney disorder: Furthermore, several VUS in known renal disease genes were analyzed by means of retrospective phenotyping or upon complementary DNA (cDNA)-based splice site analysis (GANAB: c.2319G>A, p.Ala773=, PARN: c.1405+3A>G in ID52.1, SEC63: c.1936–8->TTT in ID20.1 and ID97.1), disproving pathogenicity (Table S4, Fig. S3).