Fig. 4. Diagnostic rate of pathogenic or likely pathogenic variants, stratified by panel.

Variant classification was based on 2015 ACMG guidelines²⁰. The number of families referred for each panel is shown along the x-axis. Abbreviated panels are as follows: ADTKD autosomal dominant tubulointerstitial kidney disease, aHUS/C3 GN atypical hemolytic uremic syndrome-C3 glomerulonephritis, Alport Alport syndrome, ARPKD autosomal recessive polycystic kidney disease, BORS branchio-oto renal syndrome, CAKUT congenital anomalies of the kidney and urinary tract, Nephrotic nephrotic syndrome, NPHP & ciliopathies nephronophthisis & related ciliopathies.