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 |
|---|---|---|---|---|---|
| 30 | 19 | 82 | 110 | 5 | 239 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ARL6 | 29 | 19 | 81 | 110 | 5 | 237 |
| ARL6, EPHA6 | 1 | 0 | 1 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 27 | 9 | 59 | 108 | 4 | 207 |
| Fulgent Genetics, Fulgent Genetics | 2 | 9 | 21 | 2 | 0 | 34 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 18 | 2 | 2 | 22 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Department of Medical Genetics, Erciyes University Faculty of Medicine | 1 | 1 | 0 | 0 | 0 | 2 |
| New York Genome Center | 0 | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Clinical Genetics and Genomics Laboratory, Noor Shahriyar Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 0 | 1 |
| SingHealth Duke-NUS Institute of Precision Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 0 | 1 |