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 |
|---|---|---|---|---|---|
| 8 | 3 | 299 | 129 | 10 | 427 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| DOLK | 8 | 3 | 297 | 129 | 9 | 424 |
| DOLK, NUP188 | 0 | 0 | 2 | 0 | 1 | 3 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 3 | 0 | 258 | 127 | 8 | 396 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 39 | 1 | 2 | 42 |
| Fulgent Genetics, Fulgent Genetics | 0 | 2 | 34 | 2 | 0 | 38 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 6 | 4 | 1 | 11 |
| OMIM | 6 | 0 | 0 | 0 | 0 | 6 |
| Revvity Omics, Revvity | 0 | 0 | 5 | 0 | 0 | 5 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Genomics Laboratory, Stanford Medicine | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 0 | 1 |