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 |
|---|---|---|---|---|---|
| 5 | 2 | 32 | 37 | 5 | 76 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Congenital disorder of glycosylation type 1E | 5 | 1 | 29 | 31 | 2 | 65 |
| not provided | 2 | 1 | 3 | 6 | 3 | 15 |
| Inborn genetic diseases | 1 | 0 | 7 | 0 | 0 | 8 |
| not specified | 0 | 0 | 0 | 5 | 0 | 5 |
| DPM1-related disorder | 1 | 0 | 0 | 1 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 4 | 0 | 25 | 31 | 2 | 62 |
| GeneDx | 1 | 1 | 0 | 9 | 3 | 14 |
| Ambry Genetics | 1 | 0 | 7 | 0 | 0 | 8 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Mayo Clinic Laboratories, Mayo Clinic | 1 | 0 | 2 | 0 | 0 | 3 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 3 | 0 | 0 | 3 |
| PreventionGenetics, part of Exact Sciences | 1 | 0 | 0 | 1 | 0 | 2 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 2 | 0 | 2 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 1 | 0 | 0 | 1 | 2 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 0 | 1 | 0 | 0 | 1 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University | 0 | 1 | 0 | 0 | 0 | 1 |