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 | 11 | 14 | 9 | 0 | 38 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| ALG8 | 4 | 11 | 14 | 8 | 37 |
| ALG8, LOC130006492 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 3 | 8 | 13 | 8 | 32 |
| OMIM | 3 | 0 | 0 | 0 | 3 |
| 3billion | 0 | 1 | 1 | 0 | 2 |
| Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" | 0 | 0 | 1 | 1 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 1 | 0 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 1 | 0 | 0 | 0 | 1 |
| Arkana Molecular Diagnostic Laboratory, Arkana Laboratories | 1 | 0 | 0 | 0 | 1 |
| Dr. med. U. Finckh, Human Genetics, Eurofins MVZ | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 0 | 0 | 1 |