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 |
|---|---|---|---|---|---|
| 0 | 0 | 133 | 17 | 7 | 157 |
Condition and significance breakdown #
Total conditions: 4
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| not specified | 124 | 11 | 0 | 135 |
| not provided | 8 | 5 | 7 | 20 |
| See cases | 0 | 1 | 0 | 1 |
| Silver Russell Syndrome-related disorder | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Ambry Genetics | 123 | 11 | 0 | 134 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 7 | 7 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 6 | 6 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 4 | 1 | 5 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 3 | 1 | 0 | 4 |
| Bionano Laboratories | 3 | 0 | 0 | 3 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 1 | 0 | 0 | 1 |
| GeneDx | 0 | 0 | 1 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 1 |
| Richard Lifton Laboratory, Yale University School of Medicine | 1 | 0 | 0 | 1 |
| ISCA Site 6 | 0 | 1 | 0 | 1 |
| Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano | 1 | 0 | 0 | 1 |