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 |
|---|---|---|---|---|---|
| 12 | 4 | 102 | 99 | 16 | 233 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| PRDM12 | 8 | 3 | 89 | 67 | 16 | 183 |
| LOC126860775, PRDM12 | 3 | 0 | 10 | 15 | 0 | 28 |
| LOC130002813, PRDM12 | 0 | 1 | 3 | 17 | 0 | 21 |
| LOC130002813, LOC130002814, PRDM12 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 3 | 1 | 101 | 99 | 15 | 219 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Illumina Laboratory Services, Illumina | 0 | 2 | 0 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 2 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Molecular and Human Genetics, Baylor College of Medicine | 1 | 0 | 0 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, Heidelberg University | 0 | 1 | 0 | 0 | 0 | 1 |