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 |
|---|---|---|---|---|---|
| 1 | 1 | 0 | 1 | 0 | 3 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | likely benign | total |
|---|---|---|---|---|
| GCH1 | 0 | 0 | 1 | 1 |
| LOC129992304, QDPR | 0 | 1 | 0 | 1 |
| PTS | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 2
| Submitter | pathogenic | likely pathogenic | likely benign | total |
|---|---|---|---|---|
| Pediatrics, Sichuan Provincial Hospital For Women And Children | 1 | 1 | 0 | 2 |
| CSER _CC_NCGL, University of Washington | 0 | 0 | 1 | 1 |