ClinVar Miner

Variants studied for Cardiomyopathy

Coded as:
Minimum submission review status: Collection method:
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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
62 107 1338 920 768 2 3107

Gene and significance breakdown #

Total genes and gene combinations: 98
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 9 18 305 170 179 2 675
RYR2 0 2 136 107 90 0 320
DSP 1 13 100 89 49 0 239
MYBPC3 28 12 103 72 30 0 239
MYH7 3 11 75 56 40 0 180
DSG2 0 1 49 31 32 0 106
PKP2 3 5 37 43 21 0 105
DSC2 0 2 38 28 17 0 80
MYH6 0 1 28 25 24 0 76
ACTN2 0 0 39 13 9 0 61
LMNA 3 3 19 20 15 0 59
PRKAG2 1 2 21 25 12 0 58
TMEM43 0 1 25 16 14 0 52
TNNT2 2 2 21 13 12 0 50
LAMA4 0 0 22 16 11 0 47
MHRT, MYH7 0 2 26 13 9 0 47
RBM20 1 1 19 11 13 0 44
ABCC9 0 3 12 14 15 0 42
LDB3 0 0 20 6 14 0 38
NEXN 0 0 29 5 4 0 38
MYL3 0 1 16 10 5 0 31
TPM1 1 4 12 10 4 0 31
TNNI3 1 4 10 11 3 0 29
VCL 0 1 14 3 9 0 27
ACTC1, LOC101928174 1 1 8 11 4 0 24
MYL2 0 2 11 5 7 0 24
MYLK2 0 1 8 6 7 0 22
CSRP3 0 3 12 4 2 0 21
CAV3 0 0 9 5 4 0 16
DES 0 1 7 4 4 0 16
JUP 0 0 4 6 6 0 16
ANKRD1 0 0 4 3 8 0 15
LOC101927055, TTN 0 1 5 2 7 0 15
TTR 3 0 6 1 5 0 15
GLA, RPL36A-HNRNPH2 1 2 6 1 2 0 12
EMD 0 1 6 2 2 0 11
CASQ2 0 0 4 1 5 0 10
SCN5A 0 0 4 2 4 0 10
FHL2 0 0 2 3 4 0 9
LAMP2 0 0 7 0 2 0 9
LOC114827851, MYH6 0 0 3 0 6 0 9
MYOZ2 0 0 4 1 4 0 9
SGCD 0 0 1 5 4 0 9
ANK2 0 0 2 4 2 0 8
LOC114827850, MYL2 0 1 3 1 3 0 8
AKAP9 0 0 0 4 3 0 7
CEP85L, PLN 2 1 3 1 0 0 7
DMD 0 0 0 2 5 0 7
MYPN 0 0 1 4 2 0 7
TCAP 0 0 3 2 2 0 7
TNNC1 0 0 5 2 0 0 7
CRYAB 0 2 3 0 1 0 6
CTF1 0 0 3 1 2 0 6
TRPM4 0 0 1 4 1 0 6
FKTN 0 0 1 2 2 0 5
HCN4 0 0 2 1 2 0 5
TAZ 1 0 2 2 0 0 5
DSC2, DSCAS 0 0 3 0 1 0 4
LDB3, LOC110121486 0 0 4 0 0 0 4
TMPO 0 0 0 0 4 0 4
CAV3, SSUH2 0 0 2 1 0 0 3
DNAAF3, TNNI3 0 0 0 0 3 0 3
DTNA 0 0 0 0 3 0 3
GAA 0 0 0 2 1 0 3
JPH2 0 0 1 1 1 0 3
KCNE1 0 0 1 0 2 0 3
NEBL 0 0 2 0 1 0 3
CACNB2, NSUN6 0 0 0 2 0 0 2
CALR3 0 0 0 2 0 0 2
CASQ2, VANGL1 0 0 0 0 2 0 2
FLNC 0 1 1 0 0 0 2
LOC100128979, TPM1 0 0 0 2 0 0 2
SGCA 0 0 0 1 1 0 2
ACTC1 0 0 0 0 1 0 1
ALPK3 0 1 0 0 0 0 1
APOA1 0 0 0 1 0 0 1
BAG3 0 0 0 1 0 0 1
BRAF 0 0 0 0 1 0 1
CACNA1C 0 0 1 0 0 0 1
CACNB2 0 0 0 1 0 0 1
CHRM2, LOC349160 0 0 1 0 0 0 1
COX15 0 0 1 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 1 0 1 0 1
DNASE1L1, TAZ 0 0 1 0 0 0 1
EYA4, TARID 0 0 0 0 1 0 1
GPD1L 0 0 0 1 0 0 1
ILK 0 0 0 1 0 0 1
ILK, TAF10 0 0 0 0 1 0 1
KCNE3, LIPT2 0 0 0 1 0 0 1
KCNQ1 0 0 0 0 1 0 1
LOC110121269, SCN5A 0 0 0 1 0 0 1
MYOT 0 0 1 0 0 0 1
PDLIM3 0 0 0 1 0 0 1
SCN1B 1 0 0 0 0 0 1
SCN3B 0 0 0 1 0 0 1
SYNE1 0 0 1 0 0 0 1
TGFB3 0 0 0 1 0 0 1
TXNRD2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 37 66 878 367 389 0 1737
Color 1 3 394 449 321 0 1168
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 3 8 50 104 54 0 219
Integrated Genetics/Laboratory Corporation of America 2 14 8 22 64 0 110
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 0 7 1 46 0 54
GeneDx 15 1 8 1 24 0 49
Blueprint Genetics 2 3 21 1 0 0 27
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 6 0 0 0 0 6
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 5 0 0 0 6
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 1 2 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 1 0 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Caglayan Lab,Istanbul Bilim University 0 1 0 0 0 0 1

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