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 |
|---|---|---|---|---|---|
| 3 | 0 | 66 | 99 | 21 | 182 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not provided | 0 | 56 | 94 | 20 | 167 |
| Inborn genetic diseases | 1 | 17 | 0 | 0 | 18 |
| SPARC-related disorder | 0 | 0 | 10 | 0 | 10 |
| Osteogenesis imperfecta type 17 | 2 | 1 | 1 | 5 | 9 |
| Osteogenesis imperfecta | 0 | 1 | 2 | 3 | 6 |
| not specified | 0 | 2 | 2 | 0 | 4 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 49 | 87 | 5 | 141 |
| GeneDx | 0 | 6 | 8 | 17 | 31 |
| Ambry Genetics | 1 | 17 | 0 | 0 | 18 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 10 | 0 | 10 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 10 | 0 | 0 | 10 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 2 | 7 | 0 | 9 |
| Genome Diagnostics Laboratory, The Hospital for Sick Children | 0 | 1 | 2 | 3 | 6 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 2 | 2 | 0 | 4 |
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 3 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 2 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 1 | 0 | 2 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 2 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Eurofins Ntd Llc (ga) | 0 | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 0 | 1 |