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 |
|---|---|---|---|---|---|
| 7 | 2 | 421 | 417 | 83 | 915 |
Gene and significance breakdown #
Total genes and gene combinations: 6
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 1 | 0 | 404 | 412 | 76 | 893 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 11 | 11 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 5 | 5 | 0 | 10 |
| Revvity Omics, Revvity | 0 | 0 | 9 | 0 | 0 | 9 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Baylor Genetics | 0 | 0 | 4 | 0 | 0 | 4 |
| Mendelics | 1 | 0 | 0 | 1 | 1 | 3 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 2 | 1 | 0 | 3 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 1 | 1 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 3 | 0 | 0 | 3 |
| New York Genome Center | 0 | 0 | 1 | 1 | 0 | 2 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 1 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Neurology, Children’s Hospital of Chongqing Medical University | 1 | 0 | 0 | 0 | 0 | 1 |