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 |
|---|---|---|---|---|---|
| 13 | 2 | 70 | 42 | 6 | 125 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| TMEM138 | 13 | 2 | 70 | 42 | 6 | 125 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 8 | 1 | 50 | 41 | 5 | 105 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 24 | 1 | 2 | 27 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 0 | 1 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 0 | 0 | 0 | 1 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 1 |
| Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre | 1 | 0 | 0 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| UW Hindbrain Malformation Research Program, University of Washington | 1 | 0 | 0 | 0 | 0 | 1 |
| Daryl Scott Lab, Baylor College of Medicine | 1 | 0 | 0 | 0 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 0 | 0 | 1 | 1 |
| Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University | 0 | 0 | 1 | 0 | 0 | 1 |