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 |
|---|---|---|---|---|---|
| 3 | 3 | 33 | 15 | 8 | 60 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not specified | 0 | 0 | 28 | 2 | 0 | 30 |
| not provided | 0 | 1 | 5 | 13 | 8 | 27 |
| Biliary, renal, neurologic, and skeletal syndrome | 3 | 2 | 1 | 0 | 0 | 5 |
| Caroli disease | 0 | 1 | 0 | 0 | 0 | 1 |
| Hydrocephalus | 1 | 0 | 0 | 0 | 0 | 1 |
| IFT56-related disorder | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 28 | 2 | 0 | 30 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 5 | 13 | 8 | 26 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 1 | 0 | 0 | 0 | 2 |
| GeneDx | 0 | 1 | 0 | 0 | 0 | 1 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 1 | 0 | 1 |
| Human Genetics Section, Sidra Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Medical Genomics, Royal Prince Alfred Hospital | 0 | 0 | 1 | 0 | 0 | 1 |