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 |
|---|---|---|---|---|---|---|
| 466 | 136 | 797 | 2039 | 143 | 1 | 3427 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| DYSF | 464 | 133 | 794 | 2020 | 142 | 0 | 3399 |
| DYSF, LOC122787137 | 1 | 3 | 3 | 18 | 1 | 1 | 26 |
| DYSF, LOC110121121 | 1 | 0 | 0 | 1 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 462 | 124 | 636 | 2023 | 142 | 0 | 3387 |
| Illumina Laboratory Services, Illumina | 5 | 1 | 175 | 18 | 12 | 0 | 211 |
| Jain Foundation | 2 | 9 | 0 | 0 | 0 | 0 | 11 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
| Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
| Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Laboratory of Molecular Genetics, Federal State Budgetary Educational Institution of Higher Education, Saint Petersburg State Pediatric Medical University of the Ministry of Health of the Russian Federation | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 1 | 0 | 0 | 0 | 1 |