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 | not provided | total |
---|---|---|---|---|---|---|
1 | 6 | 26 | 15 | 0 | 4 | 52 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
---|---|---|---|---|---|---|
TTN | 0 | 1 | 5 | 5 | 0 | 11 |
DSP | 0 | 0 | 4 | 0 | 0 | 4 |
PKP2 | 1 | 1 | 1 | 1 | 0 | 4 |
SCN5A | 0 | 1 | 1 | 1 | 1 | 4 |
CACNA1C | 0 | 0 | 3 | 0 | 0 | 3 |
KCNJ2 | 0 | 0 | 0 | 0 | 3 | 3 |
AKAP9 | 0 | 0 | 1 | 1 | 0 | 2 |
ANK2 | 0 | 0 | 1 | 1 | 0 | 2 |
HCN4 | 0 | 0 | 2 | 0 | 0 | 2 |
KCNH2 | 0 | 0 | 2 | 0 | 0 | 2 |
CACNB2 | 0 | 0 | 0 | 1 | 0 | 1 |
HCN4, LOC105370890 | 0 | 0 | 1 | 0 | 0 | 1 |
LDB3 | 0 | 0 | 0 | 1 | 0 | 1 |
LMNA | 0 | 1 | 0 | 0 | 0 | 1 |
LOC126806424, TTN | 0 | 0 | 0 | 1 | 0 | 1 |
LOC126861898, MYH7 | 0 | 1 | 0 | 0 | 0 | 1 |
MYLK2 | 0 | 0 | 1 | 0 | 0 | 1 |
PTPN11 | 0 | 1 | 0 | 0 | 0 | 1 |
RAF1 | 0 | 0 | 1 | 0 | 0 | 1 |
RYR2 | 0 | 0 | 1 | 0 | 0 | 1 |
SNTA1 | 0 | 0 | 0 | 1 | 0 | 1 |
SOS1 | 0 | 0 | 1 | 0 | 0 | 1 |
TCAP | 0 | 0 | 1 | 0 | 0 | 1 |
TRPM4 | 0 | 0 | 0 | 1 | 0 | 1 |
VCL | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
---|---|---|---|---|---|---|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego | 1 | 2 | 15 | 15 | 0 | 33 |
Blueprint Genetics | 0 | 0 | 10 | 0 | 0 | 10 |
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust | 0 | 0 | 0 | 0 | 4 | 4 |
Clinical Genetics Laboratory, Skane University Hospital Lund | 0 | 2 | 0 | 0 | 0 | 2 |
Biesecker Lab/Clinical Genomics Section, National Institutes of Health | 0 | 0 | 1 | 0 | 0 | 1 |
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute | 0 | 1 | 0 | 0 | 0 | 1 |
Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 0 | 0 | 1 |