Table 3.

Identified VOUS stratified by panel.

Panel	%F	Number of families	VOUS identification rate (%)	Identified genes (number of families)
ADTKD	40	5	14	UMOD (4), REN (1)
aHUS/C3 GN	65	23	15	CFH (6), ADAMTS13 (3), C3 (3), CFI (3), CD46 (2), THBD (2), CFB (1), CFHR1 and CFHR3 heterozygous deletion (1), CFHR5 (1), PLG (1)
Alport	40	5	6	COL4A5 (4), COL4A4 (1)
ARPKD	50	2	17	PKHD1 (2)
BORS	–	0	0	–
CAKUT	25	16a	41	FRAS1 (3), ROBO2 (2), SALL1 (2), ACE (1), BICC1 (1), FREM1 (1), FREM2 (1), HNF1B (1), JAG1 (1), KMT2D (1), NIPBL (1), NOTCH2 (1), RET (1), SRGAP1 (1)
Custom	0	2	17	COQ8B (1), SEC63(1)
Cystinosis	–	0	0	–
Nephrotic	52	23b	22	TRPC6 (3), TTC21B (3), COL4A5 (2), INF2 (2), LAMB2 (2), NPHS2 (2), ACTN4 (1), ALMS1 (1), ANLN (1), ARHGAP24 (1), ITGB4 (1), MYH9 (1), NPHS1 (1), NUP93 (1), PLCE1 (1), WT1 (1)
NPHP & related ciliopathies	25	142	21	NPHP4 (5), C5ORF42 (2), CC2D2A (1), CEP164 (1), DYNC2H1 (1), EVC (1), IFT172 (1), INVS (1), KIF7 (1), WDR19 (1)
Tubulopathies	62	13	19	SLC12A3 (5), SLC34A1 (2), SLC4A1 (2), ATP6V1B1 (1), CASR (1), SLC12A1 (1), SLC7A9 (1)

Variant classification was based on 2015 ACMG guidelines²⁰. Variant of uncertain significance (VOUS) identification rate was defined as the proportion of referred families in which at least one VOUS was detected. Sex ratio was abbreviated as %F (percent female).

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 & related ciliopathies nephronophthisis & related ciliopathies.

^aVOUS were identified in two different genes in two families.

^bVOUS were identified in two different genes in one family.