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 |
|---|---|---|---|---|---|
| 33 | 6 | 16 | 1 | 1 | 56 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SRY | 31 | 6 | 15 | 1 | 1 | 53 |
| intergenic | 2 | 0 | 0 | 0 | 0 | 2 |
| LOC108178989, SRY | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 10 | 2 | 14 | 1 | 1 | 28 |
| OMIM | 20 | 0 | 0 | 0 | 0 | 20 |
| Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital | 1 | 0 | 1 | 0 | 0 | 2 |
| Human Developmental Genetics, Institut Pasteur | 2 | 0 | 0 | 0 | 0 | 2 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 1 | 0 | 0 | 0 | 1 |
| First Genomix Gene Laboratory, Genetic Diagnostics Department | 0 | 0 | 1 | 0 | 0 | 1 |
| Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 1 | 0 | 0 | 0 | 1 |
| Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital | 0 | 1 | 0 | 0 | 0 | 1 |
| Variantyx, Inc. | 0 | 1 | 0 | 0 | 0 | 1 |