Table 4.

Details of effect on management (L1 and L2) among patients with diagnostic results

Patient Identifier	L1/L2	Initial Diagnosis	Changed Diagnosis	Variant Found	Effect on Management
RGC-0030	L1	Infantile nephrotic syndrome		NPHS2	Avoidance of immune suppression
RGC-0034	L1	Atypical HUS		WT1	Bilateral nephrectomy, pelvic MRI, tapering eculizumab
RGC-0046	L1	Positive family history of infantile nephrotic syndrome		NPHS2	Avoidance of immune suppression
RGC-0047	L1	Infantile nephrotic syndrome		NPHS2	Avoidance of immune suppression
RGC-0054	L1	Nephrotic-range proteinuria		PLCE1	Avoidance of immune suppression
RGC-0066	L2	Townes–Brocks syndrome	USP9X-related disorder	USP9X
RGC-0068	L2	FSGS	Lowe syndrome	OCRL
RGC-0070	L2	Developmental delay and kidney problem	Nephronophthisis	NPHP4
RGC-0080	L1	ARPKD/ADPKD		PKHD1	Pseudodominant ARPKD
RGC-0083	L1, L2	FSGS	Alport syndrome	COL4A5	Avoidance of immune suppression
RGC-0084	L1	Mitochondrial disease		RMND1	Kidney transplantation is indicated for patients with RMND1 variants if needed
RGC-0105	L2	Nephrotic syndrome	Alport syndrome	COL4A4
RGC-0108	L1, L2	Proteinuria/Alport syndrome	Dent syndrome	OCRL	Avoidance of immune suppression, management related to Dent disease
RGC-0113	L2	CAKUT	ADPKD	PKD2
RGC-0118	L1, L2	CAKUT	Bartter syndrome	KCNJ1	Indomethacin treatment recommended and DEXA bone scan showed low bone density
RGC-0143	L1	Nephrotic syndrome		NPHS1	Avoidance of immune suppression
RGC-0145	L2	Polycystic kidney disease	Nephronophthisis	NEK8	Clinical diagnosis of ARPKD was changed to nephronophthisis
RGC-0164a	L2	Cystic kidney disease	17q12 deletion syndrome	HNF1B and BRCA2	Secondary finding of BRCA2
RGC-0171	L1	Proteinuria	WT1-associated disease	WT1	Followed by cancer prevention clinic
RGC-0182	L2	FSGS	Alport syndrome	COL4A5
RGC-0185	L1	Hypomagnesemia		TRPM6	Hypocalcemia and hypomagnesemia are due to defect in intestinal absorption of magnesium
RGC-0186	L1	Wilms tumor	WT1-associated syndrome		Affected surgical nephrectomy of patient
RGC-0190	L1	Renal failure, proteinuria	WT1-associated syndrome	WT1	CMA revealed patient is XY female. Risk of gonad blastoma in an XY female patient was discussed
RGC-0191	L1	Periodic hypokalemic paralysis		CACNA15	Treatment with Acetazolamide
RGC-0192	L2	CKD	Alport syndrome	COL4A5

L1, effect on medical and/or surgical treatment; L2, change of medical diagnosis; HUS, hemolytic uremic syndrome; MRI, magnetic resonance imaging; ARPKD, autosomal recessive polycystic kidney disease; ADPKD, autosomal dominant polycystic kidney disease; CAKUT, congenital anomalies of the kidney and urinary tract; DEXA, dual-energy x-ray absorptiometry; CMA, chromosomal microarray.

^aPatient had a secondray finding of pathogenic variant in BRCA2.