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 |
---|---|---|---|---|---|
3 | 16 | 153 | 14 | 11 | 196 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
PRKAG2 | 1 | 0 | 80 | 13 | 11 | 104 |
RYR2 | 0 | 0 | 6 | 0 | 0 | 6 |
RHBDF1 | 0 | 0 | 5 | 0 | 0 | 5 |
PRDM16 | 0 | 0 | 4 | 0 | 0 | 4 |
ANK2 | 0 | 0 | 3 | 0 | 0 | 3 |
JUP | 0 | 1 | 2 | 0 | 0 | 3 |
KCNQ1 | 0 | 2 | 1 | 0 | 0 | 3 |
LOC129999660, PRKAG2 | 0 | 0 | 3 | 0 | 0 | 3 |
LOC129999670, PRKAG2 | 0 | 0 | 2 | 1 | 0 | 3 |
MYBPC3 | 0 | 0 | 3 | 0 | 0 | 3 |
VCL | 0 | 0 | 3 | 0 | 0 | 3 |
ABCC9 | 0 | 1 | 1 | 0 | 0 | 2 |
ACTC1, GJD2-DT | 0 | 1 | 1 | 0 | 0 | 2 |
AKAP9 | 0 | 0 | 2 | 0 | 0 | 2 |
CACNA1C | 0 | 0 | 2 | 0 | 0 | 2 |
DPP6 | 0 | 0 | 2 | 0 | 0 | 2 |
DSP | 0 | 0 | 2 | 0 | 0 | 2 |
FLNC | 0 | 0 | 2 | 0 | 0 | 2 |
FNIP1 | 0 | 0 | 2 | 0 | 0 | 2 |
KCNH2 | 0 | 0 | 2 | 0 | 0 | 2 |
LAMA4 | 0 | 0 | 2 | 0 | 0 | 2 |
MYH6 | 0 | 1 | 1 | 0 | 0 | 2 |
MYH7 | 0 | 1 | 1 | 0 | 0 | 2 |
SCN5A | 0 | 2 | 0 | 0 | 0 | 2 |
TTC39A | 0 | 0 | 2 | 0 | 0 | 2 |
TTN | 0 | 2 | 0 | 0 | 0 | 2 |
ACTN2 | 0 | 0 | 1 | 0 | 0 | 1 |
CACNA1E | 0 | 0 | 1 | 0 | 0 | 1 |
CASQ2 | 0 | 1 | 0 | 0 | 0 | 1 |
FLNA | 0 | 0 | 1 | 0 | 0 | 1 |
GJA5 | 0 | 0 | 1 | 0 | 0 | 1 |
GPD1L | 0 | 0 | 1 | 0 | 0 | 1 |
KCNJ2 | 0 | 0 | 1 | 0 | 0 | 1 |
LAMC1 | 0 | 0 | 1 | 0 | 0 | 1 |
LMNA | 0 | 0 | 1 | 0 | 0 | 1 |
LOC126806067, RYR2 | 0 | 0 | 1 | 0 | 0 | 1 |
LOC126861898, MYH7 | 0 | 1 | 0 | 0 | 0 | 1 |
MHRT, MYH7 | 0 | 1 | 0 | 0 | 0 | 1 |
MYH11, NDE1 | 0 | 0 | 1 | 0 | 0 | 1 |
NEBL | 0 | 0 | 1 | 0 | 0 | 1 |
NODAL | 1 | 0 | 0 | 0 | 0 | 1 |
PITX2 | 0 | 0 | 1 | 0 | 0 | 1 |
RBM20 | 0 | 0 | 1 | 0 | 0 | 1 |
SLC26A4 | 0 | 1 | 0 | 0 | 0 | 1 |
SNTA1 | 0 | 0 | 1 | 0 | 0 | 1 |
TBX20 | 1 | 0 | 0 | 0 | 0 | 1 |
TBX5 | 0 | 0 | 1 | 0 | 0 | 1 |
TCAP | 0 | 0 | 1 | 0 | 0 | 1 |
TGFBR2 | 0 | 0 | 1 | 0 | 0 | 1 |
TNNT2 | 0 | 1 | 0 | 0 | 0 | 1 |
TRPM4 | 0 | 0 | 1 | 0 | 0 | 1 |
WWP1 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
Illumina Laboratory Services, Illumina | 0 | 0 | 78 | 14 | 10 | 102 |
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 1 | 15 | 69 | 0 | 0 | 85 |
Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 3 | 0 | 0 | 4 |
OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital | 0 | 1 | 0 | 0 | 0 | 1 |
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 1 |
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 0 | 1 | 0 | 0 | 1 |
Centre for Genomic and Experimental Medicine, University of Edinburgh | 1 | 0 | 0 | 0 | 0 | 1 |
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
3billion | 1 | 0 | 0 | 0 | 0 | 1 |