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 |
|---|---|---|---|---|---|
| 4 | 0 | 5 | 2 | 3 | 14 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| MAMLD1 | 4 | 5 | 2 | 3 | 14 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 1 | 3 |
| Mendelics | 0 | 1 | 0 | 1 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 2 | 0 | 0 | 2 |
| Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 0 | 1 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 0 | 1 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 0 | 1 |