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 |
|---|---|---|---|---|---|
| 6 | 4 | 9 | 0 | 0 | 19 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| METTL23 | 6 | 4 | 9 | 19 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Baylor Genetics | 0 | 0 | 7 | 7 |
| OMIM | 4 | 0 | 0 | 4 |
| Revvity Omics, Revvity | 1 | 1 | 1 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 2 | 1 | 0 | 3 |
| Genomic Medicine Lab, University of California San Francisco | 0 | 1 | 1 | 2 |
| Molecular Genetics Lab, CHRU Brest | 1 | 1 | 0 | 2 |
| Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 1 | 0 | 0 | 1 |
| Department of Medical Genetics, National Institute of Health | 1 | 0 | 0 | 1 |
| Wangler Lab, Baylor College of Medicine | 0 | 0 | 1 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 0 | 1 | 1 |
| New York Genome Center | 1 | 0 | 0 | 1 |
| Jpch, Dept Of Neurology, Jiangxi Provincial Children’s Hospital | 1 | 0 | 0 | 1 |