PKHD1 and autosomal recessive polycystic kidney disease: The pathogenic PKHD1 variant has been reported in a biallelic state in multiple individuals with autosomal recessive PKD (ARPKD).42, , –45 The VUS in PKHD1 c.10909C>T (p.Arg3637Cys) is rare and has been reported in ClinVar multiple times as a VUS.