ClinVar Miner

Variants studied for cardiac conduction defect

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
4 8 51 4 1 2 69

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR2 0 2 6 0 0 0 8
ANK2 0 0 5 0 0 0 5
SCN5A 0 1 1 1 1 0 4
CACNA1C 0 1 2 0 0 0 3
DSP 2 0 1 0 0 0 3
MYBPC3 1 0 2 0 0 0 3
TRPM4 0 0 2 1 0 0 3
DMD 0 0 2 0 0 0 2
DSG2 0 1 1 0 0 0 2
HCN4 0 0 2 0 0 0 2
KCNH2 0 0 1 0 0 1 2
KCNQ1 1 0 1 0 0 0 2
MYH6 0 0 2 0 0 0 2
MYH7 0 1 1 0 0 0 2
PKP2 0 0 2 0 0 0 2
TTN 0 0 1 1 0 0 2
ABCC9 0 0 0 1 0 0 1
AKAP10 0 0 1 0 0 0 1
AKAP9 0 0 1 0 0 0 1
ANK2, LOC126807137 0 0 1 0 0 0 1
CASQ2 0 0 1 0 0 0 1
CEP85L, PLN 0 1 0 0 0 0 1
DPP6 0 0 1 0 0 0 1
FLNC 0 1 0 0 0 0 1
GPD1L 0 0 1 0 0 0 1
JUP 0 0 1 0 0 0 1
KCNQ1, KCNQ1OT1 0 0 1 0 0 0 1
LOC110121269, SCN5A 0 0 1 0 0 1 1
LOC126806068, RYR2 0 0 1 0 0 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 0 0 1
MHRT, MYH7 0 0 1 0 0 0 1
MT-TT 0 0 1 0 0 0 1
MYOM1 0 0 1 0 0 0 1
NEBL 0 0 1 0 0 0 1
RBM20 0 0 1 0 0 0 1
SCN3B 0 0 1 0 0 0 1
TNNT2 0 0 1 0 0 0 1
TTR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 6 28 2 0 0 39
Blueprint Genetics 0 1 13 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 1 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 1 1 0 2
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 2 2
Centre of Medical Genetics, University of Antwerp 0 1 1 0 0 0 2
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 0 2 0 0 0 2
Center for Human Genetics, University of Leuven 0 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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