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 | association | total |
|---|---|---|---|---|---|---|
| 0 | 0 | 153 | 62 | 40 | 1 | 247 |
Condition and significance breakdown #
Total conditions: 5
| Condition | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|
| not specified | 135 | 14 | 0 | 0 | 149 |
| not provided | 10 | 35 | 30 | 0 | 71 |
| ATP10A-related disorder | 10 | 13 | 17 | 0 | 40 |
| Autism spectrum disorder | 0 | 0 | 0 | 1 | 1 |
| See cases | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|
| Ambry Genetics | 135 | 12 | 0 | 0 | 147 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 22 | 25 | 0 | 47 |
| PreventionGenetics, part of Exact Sciences | 10 | 13 | 17 | 0 | 40 |
| Breakthrough Genomics, Breakthrough Genomics | 1 | 5 | 22 | 0 | 28 |
| CeGaT Center for Human Genetics Tuebingen | 1 | 14 | 1 | 0 | 16 |
| GeneDx | 1 | 2 | 4 | 0 | 7 |
| Revvity Omics, Revvity | 4 | 0 | 0 | 0 | 4 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 2 | 0 | 0 | 0 | 2 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 1 | 0 | 0 | 0 | 1 |
| Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | 1 | 0 | 0 | 0 | 1 |
| University of Washington Center for Mendelian Genomics, University of Washington | 0 | 0 | 0 | 1 | 1 |
| Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington | 0 | 1 | 0 | 0 | 1 |