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 |
|---|---|---|---|---|---|---|
| 1 | 3 | 86 | 4 | 8 | 3 | 105 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|---|---|
| GABRA1 | 1 | 3 | 86 | 4 | 8 | 3 | 105 |
Submitter and significance breakdown #
Total submitters: 5
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 86 | 4 | 8 | 0 | 98 |
| OMIM | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
| Mendelics | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 1 | 0 | 0 | 0 | 0 | 1 |