Table 1.

Clinical features and overall results of diagnostic cohort.

Clinical feature	Diagnostic cohort n = 144	Typical n = 69	Atypical n = 75	P value
Median age at referral (yr)	39 (0–79)	37 (15–75)	43 (0–79)	0.63
M:F	71:73	32:37	39:36	0.50
Family history of PKDc	64d (45%)	45 (67%)	19 (26%)	<0.0001
Median CKD stage	1b	1	2	0.35
Enlarged kidney length (≥14.5 cm bilaterally)	34a	23	11	0.003
Results:
Overall reportable results	101 (70%)	56 (81%)	45 (60%)
Pathogenic	40 (28%)	23 (33%)	17 (23%)
Likely pathogenic	29 (20%)	22 (32%)	7 (9%)
Uncertain significance	32 (22%)	11 (16%)	21 (28%)

PKD polycystic kidney disease.

^aNot reported in 36 (25%) patients.

^bNot reported in 32 (22%) patients.

^cFirst-degree relative with PKD.

^dBiological family history unknown to three patients.