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 | 26 | 179 | 66 | 9 | 291 |
Gene and significance breakdown #
Total genes and gene combinations: 49
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| MYH7 | 3 | 5 | 30 | 31 | 5 | 74 |
| ACTC1, GJD2-DT | 0 | 0 | 42 | 1 | 0 | 42 |
| MYBPC3 | 1 | 2 | 22 | 3 | 0 | 28 |
| TNNT2 | 1 | 0 | 11 | 8 | 0 | 20 |
| LDB3 | 0 | 0 | 11 | 5 | 0 | 16 |
| TAFAZZIN | 0 | 1 | 3 | 5 | 1 | 10 |
| TTN | 0 | 6 | 3 | 0 | 0 | 9 |
| LDB3, LOC110121486 | 0 | 0 | 7 | 1 | 0 | 8 |
| LOC126861897, MHRT, MYH7 | 0 | 0 | 5 | 3 | 0 | 8 |
| DSP | 0 | 0 | 6 | 0 | 0 | 6 |
| DTNA | 0 | 0 | 4 | 0 | 1 | 5 |
| HCN4 | 1 | 2 | 1 | 0 | 0 | 4 |
| MHRT, MYH7 | 0 | 0 | 1 | 3 | 0 | 4 |
| PRDM16 | 3 | 0 | 1 | 0 | 0 | 4 |
| TPM1 | 0 | 1 | 3 | 0 | 0 | 4 |
| ACTN2 | 1 | 0 | 2 | 0 | 0 | 3 |
| DNASE1L1, LOC130068869, TAFAZZIN | 0 | 0 | 1 | 1 | 1 | 3 |
| SCN5A | 0 | 1 | 1 | 1 | 0 | 3 |
| CTNNA3 | 0 | 0 | 2 | 0 | 0 | 2 |
| DMD | 0 | 0 | 2 | 0 | 0 | 2 |
| JPH2 | 0 | 0 | 2 | 0 | 0 | 2 |
| LOC101927055, TTN | 0 | 2 | 0 | 0 | 0 | 2 |
| LOC126861898, MYH7 | 0 | 0 | 0 | 2 | 0 | 2 |
| MYPN | 0 | 0 | 2 | 0 | 0 | 2 |
| NEXN | 0 | 1 | 1 | 0 | 0 | 2 |
| PKP2 | 0 | 2 | 0 | 0 | 0 | 2 |
| RBM20 | 1 | 0 | 1 | 0 | 0 | 2 |
| ALPK3 | 0 | 0 | 1 | 0 | 0 | 1 |
| C2orf49, FHL2 | 0 | 0 | 1 | 0 | 0 | 1 |
| CBL | 0 | 0 | 1 | 0 | 0 | 1 |
| DES | 0 | 0 | 1 | 0 | 0 | 1 |
| DSG2 | 0 | 0 | 1 | 0 | 0 | 1 |
| EYA4 | 0 | 0 | 1 | 0 | 0 | 1 |
| JUP | 0 | 0 | 1 | 0 | 0 | 1 |
| LAMA4 | 0 | 0 | 1 | 0 | 0 | 1 |
| LOC114827851, MYH6, MYH7 | 0 | 0 | 0 | 1 | 0 | 1 |
| LOC114827851, MYH7 | 0 | 0 | 0 | 1 | 0 | 1 |
| LOC126806424, TTN | 1 | 0 | 0 | 0 | 0 | 1 |
| LOC126806431, TTN | 0 | 0 | 1 | 0 | 0 | 1 |
| LOC126861897, MYH7 | 0 | 0 | 1 | 0 | 0 | 1 |
| LOC129935184, TTN | 0 | 0 | 1 | 0 | 0 | 1 |
| MYH6, MYH7 | 0 | 0 | 0 | 0 | 1 | 1 |
| MYLK2 | 0 | 0 | 1 | 0 | 0 | 1 |
| RAF1 | 0 | 1 | 0 | 0 | 0 | 1 |
| RYR2 | 0 | 1 | 0 | 0 | 0 | 1 |
| TCAP | 0 | 0 | 1 | 0 | 0 | 1 |
| TMEM43 | 0 | 0 | 1 | 0 | 0 | 1 |
| TNNC1 | 0 | 0 | 1 | 0 | 0 | 1 |
| TNNI3 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 125 | 64 | 9 | 197 |
| Blueprint Genetics | 1 | 6 | 33 | 2 | 0 | 42 |
| Klaassen Lab, Charite University Medicine Berlin | 8 | 20 | 11 | 0 | 0 | 39 |
| Agnes Ginges Centre for Molecular Cardiology, Centenary Institute | 0 | 0 | 5 | 0 | 0 | 5 |
| Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital | 0 | 0 | 3 | 0 | 0 | 3 |
| New York Genome Center | 1 | 0 | 2 | 0 | 0 | 3 |
| Institute of Human Genetics, University of Wuerzburg | 1 | 0 | 1 | 0 | 0 | 2 |
| Biesecker Lab/Clinical Genomics Section, National Institutes of Health | 1 | 0 | 0 | 0 | 0 | 1 |
| Henan Key Laboratory of Chronic Disease Management, Central China Fuwai Hospital of Zhengzhou University, Fuwai Central China Cardiovascular Hospital & Central China Branch of National Center for Cardiovascular Diseases | 1 | 0 | 0 | 0 | 0 | 1 |