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 |
|---|---|---|---|---|---|
| 54 | 256 | 215 | 5 | 0 | 525 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| COL4A4 | 54 | 256 | 213 | 5 | 523 |
| COL4A3, MFF-DT | 0 | 0 | 2 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 49 | 241 | 204 | 5 | 499 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 2 | 7 | 7 | 0 | 16 |
| Department of Clinical Genetics, Medical University of Lodz | 1 | 3 | 0 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Institute of Human Genetics, Cologne University | 0 | 1 | 1 | 0 | 2 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 0 | 0 | 2 | 0 | 2 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 1 | 1 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 0 | 1 | 0 | 1 |
| Molecular Genetics Laboratory, Motol Hospital | 0 | 1 | 0 | 0 | 1 |
| Genomics, Clalit Research Institute, Clalit Health Care | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 1 |