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 |
|---|---|---|---|---|---|---|
| 2 | 0 | 7 | 2 | 6 | 1 | 17 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| CTDP1 | 1 | 7 | 2 | 6 | 1 | 16 |
| GJA3 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| Revvity Omics, Revvity | 0 | 3 | 0 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 1 | 1 | 0 | 3 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 0 | 3 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 1 | 0 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 0 | 1 | 0 | 1 |
| GeneReviews | 0 | 0 | 0 | 0 | 1 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 1 | 0 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 0 | 0 | 1 |