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 | 6 | 43 | 11 | 1 | 64 |
Gene and significance breakdown #
Total genes and gene combinations: 10
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| TGFB3 | 3 | 3 | 30 | 5 | 0 | 40 |
| PLEC | 0 | 0 | 2 | 4 | 0 | 6 |
| DSG2 | 0 | 0 | 1 | 1 | 1 | 3 |
| PKP2 | 0 | 2 | 1 | 0 | 0 | 3 |
| RYR2 | 0 | 0 | 3 | 0 | 0 | 3 |
| DSC2 | 0 | 1 | 1 | 0 | 0 | 2 |
| DSP | 0 | 0 | 2 | 0 | 0 | 2 |
| MYBPC3 | 0 | 0 | 1 | 1 | 0 | 2 |
| TTN | 1 | 0 | 1 | 0 | 0 | 2 |
| LOC126806427, TTN | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 2 | 22 | 5 | 0 | 29 |
| Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute | 1 | 3 | 9 | 1 | 1 | 15 |
| Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine | 0 | 0 | 2 | 4 | 0 | 6 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 1 | 3 | 0 | 0 | 4 |
| Baylor Genetics | 1 | 0 | 2 | 0 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| CSER _CC_NCGL, University of Washington | 0 | 0 | 1 | 1 | 0 | 2 |
| Agnes Ginges Centre for Molecular Cardiology, Centenary Institute | 0 | 0 | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Genomics Program, Stanford Medicine | 0 | 0 | 1 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |