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 | not provided | total |
|---|---|---|---|---|---|---|
| 3 | 0 | 0 | 0 | 0 | 1 | 4 |
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Total submitters: 3
| Submitter | pathogenic | not provided | total |
|---|---|---|---|
| Institute of Human Genetics, University of Leipzig Medical Center | 2 | 0 | 2 |
| GenomeConnect, ClinGen | 0 | 1 | 1 |
| Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | 1 | 0 | 1 |