Table 4.
Summary of results in which no (likely) pathogenic variant or VOUS was identified.
| Panel | %F | Number of families | None identified (%) |
|---|---|---|---|
| ADTKD | 52 | 24 | 69 |
| aHUS/C3 GN | 63 | 104 | 68 |
| Alport | 64 | 28 | 33 |
| ARPKD | 44 | 9 | 75 |
| BORS | 75 | 4 | 80 |
| CAKUT | 43 | 21 | 54 |
| Custom | 67 | 6 | 50 |
| Cystinosis | – | 0 | 0 |
| Nephrotic | 48 | 52 | 49 |
| NPHP & related ciliopathies | 56 | 34 | 52 |
| Tubulopathies | 53 | 32 | 47 |
Variants were classified according to 2015 ACMG guidelines20. Sex ratio was abbreviated as %F (percent female). Percentage of families in which no (likely) pathogenic variant or variant of uncertain significance (VOUS) was identified was abbreviated as none identified.
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.