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 |
|---|---|---|---|---|---|
| 13 | 4 | 71 | 15 | 2 | 101 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CEP85L, PLN | 12 | 4 | 70 | 15 | 2 | 99 |
| PLN | 1 | 0 | 1 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 12 | 3 | 42 | 13 | 1 | 71 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 27 | 2 | 1 | 30 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 15 | 0 | 0 | 15 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| New York Genome Center | 1 | 1 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust | 1 | 0 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 0 | 0 | 0 | 0 | 1 |
| Clinical Genomics Laboratory, Stanford Medicine | 0 | 0 | 1 | 0 | 0 | 1 |
| Lifecell International Pvt. Ltd | 1 | 0 | 0 | 0 | 0 | 1 |
| KTest Genetics, KTest | 1 | 0 | 0 | 0 | 0 | 1 |