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 | risk factor | total |
|---|---|---|---|---|---|---|
| 0 | 0 | 8 | 3 | 3 | 2 | 16 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|
| EIF4G1 | 8 | 3 | 3 | 2 | 16 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 1 | 3 | 0 | 0 | 4 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 3 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 3 | 0 | 0 | 0 | 3 |
| OMIM | 0 | 0 | 0 | 2 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Goettingen | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 0 | 1 |
| Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University | 1 | 0 | 0 | 0 | 1 |
| Dr. med. U. Finckh, Human Genetics, Eurofins MVZ | 1 | 0 | 0 | 0 | 1 |