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 | 6 | 34 | 18 | 2 | 64 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SLC12A2 | 4 | 6 | 28 | 16 | 2 | 56 |
| LOC129994526, SLC12A2 | 0 | 0 | 6 | 2 | 0 | 8 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 12 | 18 | 2 | 32 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 3 | 0 | 0 | 4 |
| MVZ Medizinische Genetik Mainz | 0 | 1 | 3 | 0 | 0 | 4 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 4 | 0 | 0 | 4 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| New York Genome Center | 0 | 0 | 3 | 0 | 0 | 3 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 2 | 0 | 0 | 2 |
| Diagnostics Centre, Carl Von Ossietzky University Oldenburg | 0 | 0 | 2 | 0 | 0 | 2 |
| MVZ Martinsried, Medicover Genetics | 0 | 0 | 2 | 0 | 0 | 2 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Human Genetics, Hannover Medical School | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Goettingen | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Rare Diseases, West China Hospital, Sichuan University | 0 | 1 | 0 | 0 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 1 | 0 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 0 | 1 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 0 | 1 |