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 |
|---|---|---|---|---|---|---|
| 0 | 0 | 4 | 0 | 0 | 1 | 5 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | uncertain significance | not provided | total |
|---|---|---|---|
| COL6A2 | 3 | 0 | 3 |
| COL12A1 | 1 | 1 | 2 |
Submitter and significance breakdown #
Total submitters: 3
| Submitter | uncertain significance | not provided | total |
|---|---|---|---|
| Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences | 3 | 0 | 3 |
| Genetics and Molecular Pathology, SA Pathology | 1 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 1 | 1 |