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 |
|---|---|---|---|---|---|
| 9 | 3 | 10 | 0 | 0 | 22 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| SOX6 | 8 | 3 | 9 | 20 |
| LOC108281125, LOC110120926, LOC110121340, SOX6 | 1 | 0 | 0 | 1 |
| LOC128772343, SOX6 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 5 | 0 | 0 | 5 |
| Revvity Omics, Revvity | 0 | 1 | 2 | 3 |
| Illumina Laboratory Services, Illumina | 1 | 0 | 2 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 1 | 2 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 2 | 2 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 1 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 1 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 1 |
| Molecular Genetics Lab, CHRU Brest | 1 | 0 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 0 | 1 | 1 |