This variant impacts the gene LOC126859690, PKHD1 (MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047| PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Is the change likely to result in a pathogenic outcome?
Pathogenic; Polycystic kidney disease 4