ClinVar Miner

Variants studied for Cardiomyopathy

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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
374 516 8481 5892 1632 2 16525

Gene and significance breakdown #

Total genes and gene combinations: 145
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR2 4 4 1331 1074 120 0 2490
TTN 27 109 611 593 512 2 1846
DSP 48 59 1031 642 75 0 1817
MYH7 34 61 867 573 48 0 1539
MYBPC3 148 99 734 492 51 0 1455
PKP2 41 26 390 276 38 0 750
DSG2 1 9 446 250 51 0 737
DSC2 0 2 398 209 25 0 621
LMNA 8 14 216 163 18 0 409
TMEM43 1 1 242 142 22 0 399
TNNT2 9 14 235 132 18 0 392
PRKAG2 1 3 199 166 21 0 376
TPM1 3 8 94 123 12 0 235
LOC126861897, MHRT, MYH7 1 1 154 71 7 0 229
TNNI3 9 13 115 74 10 0 214
ACTC1, GJD2-DT 1 1 55 106 3 0 164
MHRT, MYH7 0 4 95 58 5 0 158
MYL3 0 5 84 51 13 0 148
LOC126861898, MYH7 7 15 71 47 5 0 145
MYL2 1 4 82 47 12 0 142
LOC126806068, RYR2 0 1 84 43 6 0 134
FLNC 2 12 46 24 43 0 127
ACTN2 0 0 63 34 25 0 121
MYH6 0 1 36 44 39 0 117
RBM20 2 1 57 29 28 0 115
LOC126806067, RYR2 0 1 60 19 7 0 83
NEXN 0 1 55 13 15 0 82
LDB3 0 0 34 15 24 0 71
LAMA4 0 0 28 20 22 0 68
VCL 0 0 36 13 18 0 64
JUP 0 1 24 15 18 0 58
SCN5A 0 1 23 11 25 0 58
ABCC9 0 3 19 15 19 0 56
DES 1 4 22 7 12 0 46
CSRP3 1 5 24 9 4 0 43
MYLK2 0 1 14 8 18 0 40
LOC114827850, MYL2 1 3 23 10 5 0 39
LOC101927055, TTN 0 2 10 9 13 0 34
LMNA, LOC126805877 1 1 19 9 2 0 32
TTR 3 0 15 5 8 0 31
DSC2, DSCAS 0 0 18 11 2 0 30
LOC126861897, MYH7 0 0 24 5 0 0 29
CASQ2 0 0 14 6 9 0 28
LOC126806422, TTN 0 2 10 6 8 0 26
TNNC1 0 1 16 6 2 0 25
DSG2, LOC130062340 0 0 17 7 1 0 24
LOC129999660, PRKAG2 0 0 11 14 2 0 24
BAG3 0 0 7 7 9 0 23
GLA, RPL36A-HNRNPH2 3 2 10 5 3 0 23
LAMP2 1 1 12 5 4 0 23
CAV3, OXTR 0 0 12 3 7 0 22
LOC126806424, TTN 1 1 7 9 4 0 22
ANKRD1 0 0 8 3 10 0 21
LOC126806423, TTN 0 3 7 8 3 0 21
LOC126806430, TTN 0 0 8 4 10 0 21
MYOZ2 0 0 10 4 7 0 21
LOC126806425, TTN 0 3 3 7 6 0 19
LOC126806431, TTN 0 0 6 7 6 0 19
LOC114827851, MYH6 0 0 6 4 8 0 18
LOC126806427, TTN 0 0 4 4 10 0 18
LMNA, LOC129931597 0 0 8 8 1 0 17
LOC126806421, TTN 0 1 5 4 6 0 16
EMD 0 0 9 4 2 0 15
TCAP 0 1 7 4 3 0 15
ABCC9, KCNJ8 0 0 4 6 3 0 13
LOC126806420, TTN 0 0 2 7 4 0 13
LOC126806433, TTN 0 0 7 6 0 0 13
LOC126861896, MYH6 0 0 3 4 6 0 13
LOC126806428, TTN 0 0 4 2 6 0 12
LOC126806429, TTN 0 1 3 5 3 0 12
SGCD 0 0 2 4 6 0 12
CEP85L, PLN 3 1 7 1 0 0 11
C2orf49, FHL2 0 0 3 3 4 0 10
LOC110121269, SCN5A 0 0 3 4 3 0 10
LOC126806426, TTN 0 0 4 4 2 0 10
CRYAB 0 2 4 0 3 0 9
CTF1, LOC130058878 0 0 4 3 1 0 8
LOC126805765, NEXN 0 0 5 2 1 0 8
ALPK3 4 2 1 0 0 0 7
DMD 0 0 0 2 5 0 7
MYPN 0 0 1 4 2 0 7
TRPM4 0 0 2 4 1 0 7
ANK2 0 0 2 3 1 0 6
LOC129935183, TTN 0 0 0 4 2 0 6
TAFAZZIN 1 1 2 2 0 0 6
AKAP9 0 0 0 3 2 0 5
CTF1 0 0 1 2 2 0 5
FHL2 0 0 1 1 3 0 5
HCN4 0 0 2 1 2 0 5
LAMA4, LOC126859766 0 0 3 2 0 0 5
LOC130004109, VCL 0 0 1 3 1 0 5
DNAAF3, TNNI3 0 0 0 0 4 0 4
JPH2 1 0 1 1 1 0 4
LDB3, LOC110121486 0 2 2 0 0 0 4
TMPO 0 0 0 0 4 0 4
CACNB2 0 0 0 3 0 0 3
CAV3 0 0 2 1 0 0 3
DTNA 0 0 0 0 3 0 3
FKTN 0 0 0 1 2 0 3
FLNC, LOC129999273 0 0 1 2 0 0 3
GAA 0 0 0 2 1 0 3
KCNE1 0 0 1 0 2 0 3
LOC129935182, TTN 0 0 2 0 1 0 3
ANK2, LOC126807137 0 0 0 1 1 0 2
CALR3 0 0 0 2 0 0 2
CASQ2, VANGL1 0 0 0 0 2 0 2
HFE 2 0 0 0 0 0 2
LOC129935184, TTN 0 0 1 0 1 0 2
LOC130057222, TPM1 0 0 0 2 0 0 2
NEBL 0 0 2 0 0 0 2
SGCA 0 0 0 1 1 0 2
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO3, NPIPA5, XYLT1 0 1 0 0 0 0 1
ACTC1 0 0 0 0 1 0 1
AKAP9, CYP51A1 0 0 0 0 1 0 1
AKAP9, LOC121175350 0 0 0 1 0 0 1
ALPK3, LOC111718493 1 0 0 0 0 0 1
BAG5 0 1 0 0 0 0 1
BRAF 0 0 0 0 1 0 1
CACNA1C 0 0 1 0 0 0 1
CHRM2, LOC349160 0 0 1 0 0 0 1
COX15 0 0 1 0 0 0 1
DCHS1 0 0 1 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 1 0 1 0 1
DNASE1L1, TAFAZZIN 0 0 1 0 0 0 1
DSC2, DSG2 0 0 1 1 0 0 1
FHOD3 0 0 1 0 0 0 1
GPD1L 0 0 0 1 0 0 1
HCN2 0 0 1 0 0 0 1
ILK, LOC130005201 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
KLHL24 0 0 1 0 0 0 1
LDB3, LOC130004243 0 0 1 0 0 0 1
MIR208B, MYH7 0 0 1 0 0 0 1
MYOM1 0 0 1 0 0 0 1
MYOT, PKD2L2-DT 0 0 1 0 0 0 1
PDLIM3 0 0 0 1 0 0 1
RPL3L 0 0 1 0 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
UMPS 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Color Diagnostics, LLC DBA Color Health 190 133 6064 4469 458 0 11314
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 195 334 2156 1358 1230 0 5273
All of Us Research Program, National Institutes of Health 0 0 912 514 35 0 1461
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 3 9 50 104 53 0 219
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 37 42 1 8 63 0 151
Cohesion Phenomics 0 0 0 5 63 0 68
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 1 10 5 47 0 63
GeneDx 14 1 8 1 19 0 43
Blueprint Genetics 2 3 21 1 0 0 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 17 2 0 0 26
Institute of Human Genetics, University of Wuerzburg 1 12 13 0 0 0 26
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 10 1 0 0 0 12
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 5 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 2 0 0 0 0 6
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 4 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 1 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 0 1 2 1 0 4
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 1 2 0 0 0 3
Clinical Genetics Laboratory, Region Ostergotland 2 0 1 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 1 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 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
Caglayan Lab, Istanbul Bilim University 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
Department of Heart Center, Qingdao Women and Children's Hospital 0 0 1 0 0 0 1
Medical Genome Center, National Cerebral and Cardiovascular Center 0 1 0 0 0 0 1

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