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 |
|---|---|---|---|---|---|
| 1 | 1 | 140 | 44 | 12 | 190 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 0 | 1 | 90 | 38 | 11 | 137 |
| Inborn genetic diseases | 0 | 0 | 65 | 5 | 0 | 70 |
| PPP1R15B-related disorder | 0 | 0 | 1 | 5 | 4 | 10 |
| not specified | 0 | 0 | 3 | 2 | 3 | 8 |
| Microcephaly, short stature, and impaired glucose metabolism 2 | 1 | 0 | 4 | 0 | 0 | 5 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 81 | 34 | 11 | 126 |
| Ambry Genetics | 0 | 0 | 65 | 5 | 0 | 70 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 1 | 2 | 9 | 2 | 14 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 1 | 5 | 4 | 10 |
| Genetic Services Laboratory, University of Chicago | 0 | 0 | 3 | 2 | 3 | 8 |
| GeneDx | 0 | 0 | 7 | 0 | 0 | 7 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 1 | 2 | 2 | 5 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 0 | 2 |
| Gharavi Laboratory, Columbia University | 0 | 0 | 2 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 0 | 1 |