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 |
|---|---|---|---|---|---|
| 4 | 3 | 2 | 4 | 1 | 14 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Polycystic kidney disease, adult type | 3 | 1 | 2 | 0 | 0 | 6 |
| PKD1-related disorder | 0 | 0 | 0 | 3 | 0 | 3 |
| not provided | 1 | 1 | 0 | 0 | 1 | 3 |
| Autosomal dominant polycystic kidney disease | 1 | 0 | 0 | 0 | 1 | 2 |
| Polycystic kidney disease | 2 | 0 | 0 | 0 | 0 | 2 |
| See cases | 0 | 1 | 0 | 0 | 0 | 1 |
| not specified | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 4 | 0 | 4 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 3 | 0 | 0 | 0 | 1 | 4 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 2 | 0 | 1 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 1 | 0 | 0 | 2 |
| Molecular Genetics, Royal Melbourne Hospital | 1 | 0 | 1 | 0 | 0 | 2 |
| ISCA site 14 | 0 | 1 | 0 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 0 | 1 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 0 | 1 |
| Gharavi Laboratory, Columbia University | 0 | 1 | 0 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, Skane University Hospital Lund | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research | 0 | 0 | 0 | 0 | 1 | 1 |