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 | 2 | 32 | 7 | 0 | 43 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 0 | 28 | 2 | 30 |
| not provided | 0 | 0 | 4 | 5 | 9 |
| Joubert syndrome 36 | 3 | 2 | 1 | 0 | 5 |
| FAM149B1-related disorder | 0 | 0 | 1 | 0 | 1 |
| Joubert syndrome | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 26 | 2 | 28 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 5 | 5 |
| GeneDx | 0 | 0 | 3 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 0 | 2 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 1 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 0 | 1 | 0 | 1 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 1 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 0 | 1 | 0 | 1 |