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 |
|---|---|---|---|---|---|
| 4 | 11 | 12 | 0 | 2 | 29 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| PLD1 | 4 | 11 | 12 | 2 | 29 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Baylor Genetics | 0 | 4 | 5 | 0 | 9 |
| Revvity Omics, Revvity | 0 | 0 | 4 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 1 | 0 | 0 | 2 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 1 | 0 | 2 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 2 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 2 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 0 | 1 |
| Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 0 | 1 | 0 | 1 |
| Lifecell International Pvt. Ltd | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 1 |