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 |
|---|---|---|---|---|---|
| 18 | 4 | 42 | 7 | 13 | 83 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| MVK | 18 | 4 | 41 | 5 | 9 | 76 |
| MMAB, MVK | 0 | 0 | 1 | 2 | 4 | 7 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 39 | 7 | 13 | 59 |
| OMIM | 9 | 0 | 0 | 0 | 0 | 9 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 4 | 0 | 0 | 0 | 0 | 4 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 3 | 1 | 0 | 0 | 0 | 4 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 2 | 1 | 0 | 0 | 0 | 3 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 1 | 0 | 1 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals | 1 | 0 | 0 | 0 | 0 | 1 |
| Génétique des Maladies du Développement, Hospices Civils de Lyon | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare | 0 | 1 | 0 | 0 | 0 | 1 |
| Heon Lab, The Hospital for Sick Children | 0 | 1 | 0 | 0 | 0 | 1 |