Using phase-aware and family-informed ACMG classification, patients were stratified into three genetically defined groups: 40 with molecularly confirmed ARPKD (biallelic pathogenic, likely pathogenic or segregation-supported VUS-LP variants <i>in trans</i>), 10 with biallelic <i>PKHD1</i> variants of uncertain pathogenicity, and 18 monoallelic carriers. The gene discussed is PKHD1; the disease is autosomal recessive polycystic kidney disease.