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 | 4 | 2 | 2 | 4 | 12 |
Condition and significance breakdown #
Total conditions: 3
| Condition | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|
| Thyrotoxic periodic paralysis, susceptibility to, 2 | 2 | 0 | 0 | 4 | 6 |
| KCNJ18-related disorder | 0 | 2 | 1 | 0 | 3 |
| not provided | 2 | 0 | 1 | 0 | 3 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|
| OMIM | 0 | 0 | 0 | 4 | 4 |
| PreventionGenetics, part of Exact Sciences | 0 | 2 | 1 | 0 | 3 |
| GeneDx | 0 | 0 | 1 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 1 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 0 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, Skane University Hospital Lund | 1 | 0 | 0 | 0 | 1 |