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 |
|---|---|---|---|---|---|
| 62 | 15 | 737 | 544 | 75 | 1409 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 59 | 11 | 696 | 524 | 74 | 1357 |
| not specified | 0 | 0 | 107 | 7 | 3 | 116 |
| CEP250-related condition | 0 | 2 | 1 | 30 | 6 | 39 |
| Cone-rod dystrophy and hearing loss 2 | 5 | 3 | 0 | 1 | 0 | 6 |
| Retinal dystrophy | 0 | 0 | 1 | 0 | 0 | 1 |
| Usher syndrome | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 58 | 10 | 693 | 514 | 53 | 1328 |
| Ambry Genetics | 0 | 0 | 107 | 7 | 0 | 114 |
| PreventionGenetics, part of Exact Sciences | 0 | 2 | 1 | 30 | 6 | 39 |
| GeneDx | 1 | 0 | 3 | 0 | 25 | 29 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 3 | 12 | 4 | 19 |
| SIB Swiss Institute of Bioinformatics | 2 | 3 | 1 | 0 | 0 | 6 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Clinical Genetics, Academic Medical Center | 0 | 0 | 1 | 0 | 3 | 4 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 1 | 3 | 0 | 4 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 0 | 1 |
| Sharon lab, Hadassah-Hebrew University Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 1 | 0 | 0 | 0 | 1 |