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 | 6 | 0 | 0 | 10 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | uncertain significance | total |
|---|---|---|---|
| EXOC7 | 4 | 5 | 9 |
| EXOC7, ZACN | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 6
| Submitter | pathogenic | uncertain significance | total |
|---|---|---|---|
| OMIM | 4 | 0 | 4 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 0 | 2 | 2 |
| New York Genome Center | 0 | 2 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 1 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 1 |