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 | 0 | 37 | 7 | 6 | 49 |
Condition and significance breakdown #
Total conditions: 3
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 32 | 6 | 6 | 43 |
| not provided | 0 | 3 | 2 | 4 | 9 |
| Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | 1 | 7 | 0 | 0 | 7 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 31 | 5 | 0 | 36 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 2 | 1 | 4 | 7 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 1 | 4 | 6 |
| Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan | 0 | 0 | 0 | 3 | 3 |
| Baylor Genetics | 0 | 2 | 0 | 0 | 2 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 2 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| GeneDx | 0 | 0 | 0 | 1 | 1 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 1 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 1 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 1 | 0 | 0 | 1 |