ClinVar Miner

Variants studied for Cardiomyopathy

Coded as:
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Gene type:
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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
70 106 1293 825 729 3 2951

Gene and significance breakdown #

Total genes and gene combinations: 74
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 9 18 293 136 167 2 625
RYR2 0 2 132 106 90 0 315
DSP 2 19 97 84 49 0 241
MYBPC3 29 12 103 68 30 0 235
MYH7 6 11 73 56 40 0 181
DSG2 1 0 48 30 32 0 105
PKP2 3 5 37 42 21 0 104
DSC2 0 2 38 28 17 0 80
MYH6 0 0 28 23 22 0 72
ACTN2 1 0 37 12 9 0 59
LMNA 3 3 19 20 15 0 59
PRKAG2 1 2 21 25 12 0 58
TMEM43 0 1 24 16 14 0 51
TNNT2 3 1 21 13 12 0 50
MHRT, MYH7 0 1 26 13 9 0 47
LAMA4 0 0 21 13 11 0 45
ABCC9 0 3 12 14 15 0 41
RBM20 0 1 17 10 12 0 40
LDB3 0 0 19 6 14 0 37
NEXN 0 0 28 5 4 0 37
MYL3 0 1 16 10 5 0 31
TNNI3 3 4 10 11 3 0 31
TPM1 0 2 12 10 4 0 28
ACTC1, LOC101928174 1 2 8 11 4 0 25
VCL 0 1 13 2 9 0 25
CSRP3 1 3 12 4 2 0 22
MYL2 0 2 10 5 6 0 22
MYLK2 0 1 8 6 7 0 22
CAV3 0 0 9 5 3 0 16
DES 0 1 7 4 4 0 16
ANKRD1 0 0 4 3 8 0 15
JUP 0 0 4 5 6 0 15
LOC101927055, TTN 0 1 5 1 7 0 14
TTR 2 0 6 1 5 1 14
GLA, RPL36A-HNRNPH2 1 2 6 1 2 0 12
CASQ2 0 0 4 0 5 0 9
EMD 0 1 5 2 1 0 9
FHL2 0 0 2 3 4 0 9
LOC114827851, MYH6 0 0 3 0 6 0 9
MYOZ2 0 0 4 1 4 0 9
LAMP2 0 0 7 0 1 0 8
LOC114827850, MYL2 0 1 3 1 3 0 8
SCN5A 0 0 3 1 4 0 8
SGCD 0 0 0 5 4 0 8
CEP85L, PLN 2 1 3 1 0 0 7
TCAP 0 0 3 2 2 0 7
TNNC1 0 0 5 2 0 0 7
CTF1 0 0 3 0 2 0 5
FKTN 0 0 1 2 2 0 5
TAZ 1 0 2 2 0 0 5
CRYAB 0 0 3 0 1 0 4
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
NEBL 0 0 2 0 1 0 3
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
MYPN 0 0 0 0 2 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
CHRM2, LOC349160 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
ILK, TAF10 0 0 0 0 1 0 1
JPH2 0 0 1 0 0 0 1
SCN1B 1 0 0 0 0 0 1
SYNE1 0 0 1 0 0 0 1
TXNRD2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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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
Integrated Genetics/Laboratory Corporation of America 1 14 8 23 64 0 110
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 0 7 1 46 0 54
GeneDx 16 1 8 1 24 0 50
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 13 13 0 0 0 1 27
Blueprint Genetics, 2 3 21 1 0 0 27
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 Medical Center 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
Caglayan Lab,Istanbul Bilim University 0 1 0 0 0 0 1

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