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 | not provided | total |
|---|---|---|---|---|---|---|
| 8 | 0 | 5 | 0 | 3 | 2 | 16 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|
| MECR | 8 | 5 | 3 | 2 | 16 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|
| OMIM | 7 | 0 | 0 | 0 | 7 |
| Baylor Genetics | 0 | 3 | 0 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 3 | 0 | 3 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 2 | 0 | 0 | 0 | 2 |
| Undiagnosed Diseases Network, NIH | 1 | 1 | 0 | 0 | 2 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 2 | 2 |
| Kids Research, The Children's Hospital at Westmead | 2 | 0 | 0 | 0 | 2 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan | 0 | 1 | 0 | 0 | 1 |