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 |
|---|---|---|---|---|---|
| 11 | 28 | 21 | 0 | 0 | 59 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| POMGNT1, TSPAN1 | 6 | 23 | 20 | 49 |
| POMGNT1 | 2 | 1 | 1 | 4 |
| FKRP | 1 | 1 | 0 | 2 |
| GMPPB | 1 | 2 | 0 | 2 |
| CRPPA | 0 | 1 | 0 | 1 |
| CRPPA, LOC129998004 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 4
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 8 | 24 | 21 | 53 |
| Genetic Services Laboratory, University of Chicago | 2 | 4 | 0 | 6 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 1 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 1 | 0 | 0 | 1 |