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 |
|---|---|---|---|---|---|
| 8 | 8 | 6 | 3 | 2 | 27 |
Gene and significance breakdown #
Total genes and gene combinations: 17
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| FLNC | 3 | 3 | 1 | 0 | 0 | 7 |
| TNNI3 | 3 | 1 | 0 | 0 | 0 | 4 |
| TTN | 0 | 1 | 1 | 0 | 0 | 2 |
| AKAP9 | 0 | 0 | 0 | 0 | 1 | 1 |
| DMD | 0 | 0 | 0 | 0 | 1 | 1 |
| DSP | 0 | 0 | 0 | 1 | 0 | 1 |
| LOC126807246, PDLIM3 | 0 | 0 | 0 | 1 | 0 | 1 |
| LOC126861898, MYH7 | 1 | 0 | 0 | 0 | 0 | 1 |
| MHRT, MYH7 | 0 | 1 | 0 | 0 | 0 | 1 |
| MT-ND1, MT-RNR1 | 1 | 0 | 0 | 0 | 0 | 1 |
| MYH6 | 0 | 0 | 1 | 0 | 0 | 1 |
| MYH7 | 0 | 1 | 0 | 0 | 0 | 1 |
| MYL3 | 0 | 0 | 1 | 0 | 0 | 1 |
| MYOZ2 | 0 | 0 | 0 | 1 | 0 | 1 |
| MYPN | 0 | 0 | 1 | 0 | 0 | 1 |
| SLC25A4 | 0 | 0 | 1 | 0 | 0 | 1 |
| TNNT2 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego | 1 | 0 | 2 | 3 | 2 | 8 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 2 | 2 | 0 | 0 | 0 | 4 |
| Blueprint Genetics | 1 | 3 | 0 | 0 | 0 | 4 |
| Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre | 0 | 1 | 2 | 0 | 0 | 3 |
| Institute of Human Genetics, University of Wuerzburg | 0 | 2 | 0 | 0 | 0 | 2 |
| Stephanie Ware Laboratory, Indiana University School of Medicine | 2 | 0 | 0 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Agnes Ginges Centre for Molecular Cardiology, Centenary Institute | 0 | 0 | 1 | 0 | 0 | 1 |
| ClinGen Cardiomyopathy Variant Curation Expert Panel | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education | 0 | 0 | 1 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Genotypic Technology Pvt Ltd | 0 | 1 | 0 | 0 | 0 | 1 |