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 |
|---|---|---|---|---|---|
| 1 | 3 | 7 | 3 | 1 | 14 |
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 0 | 1 | 3 | 1 | 1 | 6 |
| Polycystic kidney disease, adult type | 1 | 2 | 1 | 1 | 0 | 5 |
| not specified | 0 | 0 | 3 | 1 | 0 | 4 |
| PKD1-related condition | 0 | 1 | 2 | 0 | 0 | 3 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| GeneDx | 0 | 1 | 2 | 1 | 0 | 4 |
| PreventionGenetics, part of Exact Sciences | 0 | 1 | 2 | 1 | 0 | 4 |
| Athena Diagnostics Inc | 0 | 0 | 2 | 0 | 1 | 3 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 1 | 0 | 0 | 1 | 0 | 2 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 2 | 0 | 0 | 2 |
| Cavalleri Lab, Royal College of Surgeons in Ireland | 0 | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 1 | 0 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 1 | 0 | 0 | 0 | 1 |
| Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) | 0 | 1 | 0 | 0 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 1 | 0 | 0 | 0 | 1 |