Here’s a variant in LOC126859690, PKHD1 (MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047| PKHD1 ciliary IPT domain containing fibrocystin/polyductin) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Autosomal recessive polycystic kidney disease