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 |
|---|---|---|---|---|---|---|
| 1 | 1 | 7 | 0 | 3 | 1 | 13 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| EEF2 | 1 | 1 | 6 | 2 | 1 | 11 |
| EEF2, LOC130063169 | 0 | 0 | 1 | 1 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 0 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 2 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen | 0 | 1 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 1 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |