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 |
|---|---|---|---|---|---|
| 14 | 5 | 151 | 130 | 37 | 322 |
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 8 | 1 | 110 | 117 | 37 | 271 |
| Inborn genetic diseases | 0 | 0 | 63 | 1 | 0 | 64 |
| CSGALNACT1-related disorder | 0 | 0 | 3 | 14 | 4 | 21 |
| Skeletal dysplasia, mild, with joint laxity and advanced bone age | 6 | 4 | 3 | 5 | 2 | 18 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 8 | 1 | 106 | 116 | 22 | 253 |
| Ambry Genetics | 0 | 0 | 63 | 1 | 0 | 64 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 1 | 6 | 18 | 25 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 3 | 14 | 4 | 21 |
| GeneDx | 0 | 0 | 1 | 0 | 17 | 18 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 5 | 0 | 6 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 2 | 1 | 3 |
| SIB Swiss Institute of Bioinformatics | 0 | 3 | 0 | 0 | 0 | 3 |
| Bionano Laboratories | 0 | 0 | 2 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 2 |
| MGZ Medical Genetics Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 1 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| Eurofins-Biomnis | 0 | 1 | 0 | 0 | 0 | 1 |