If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|
160 | 69 | 350 | 202 | 80 | 778 |
Condition and significance breakdown #
Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
Autosomal dominant polycystic kidney disease | 49 | 13 | 205 | 142 | 32 | 438 |
Polycystic kidney disease 2 | 91 | 28 | 123 | 32 | 14 | 274 |
not provided | 53 | 31 | 62 | 36 | 56 | 222 |
Polycystic kidney disease | 40 | 2 | 13 | 8 | 7 | 70 |
PKD2-related condition | 17 | 2 | 13 | 19 | 2 | 53 |
Inborn genetic diseases | 7 | 1 | 19 | 0 | 0 | 27 |
not specified | 3 | 0 | 7 | 4 | 12 | 24 |
Autosomal dominant polycystic liver disease | 0 | 1 | 1 | 1 | 0 | 3 |
Autosomal recessive polycystic kidney disease | 1 | 0 | 0 | 0 | 0 | 1 |
Enlarged kidney; Hyperechogenic kidneys; Multiple renal cysts; Anhydramnios | 0 | 1 | 0 | 0 | 0 | 1 |
Hydrocele testis; Multiple renal cysts | 0 | 0 | 1 | 0 | 0 | 1 |
Joubert syndrome 7 | 0 | 0 | 0 | 0 | 1 | 1 |
Multiple renal cysts; Anhydramnios | 0 | 0 | 1 | 0 | 0 | 1 |
Polycystic kidney disease, adult type | 0 | 1 | 0 | 0 | 0 | 1 |
Polycystic kidney disease; Elevated systolic blood pressure; Elevated diastolic blood pressure | 1 | 0 | 0 | 0 | 0 | 1 |
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia | 1 | 0 | 0 | 0 | 0 | 1 |