A genetic alteration is present in RCCD1-AS1, UNC45A, RCCD1-AS1, UNC45A (RCCD1 and UNC45A antisense RNA 1| unc-45 myosin chaperone A| RCCD1 and UNC45A antisense RNA 1| unc-45 myosin chaperone A) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Osteootohepatoenteric syndrome