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
320 470 7930 5452 1625 2 15468

Gene and significance breakdown #

Total genes and gene combinations: 141
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR2 4 3 1243 969 119 0 2297
TTN 26 107 613 593 512 2 1845
DSP 32 44 980 579 75 0 1678
MYBPC3 131 93 692 468 51 0 1371
MYH7 31 55 746 501 48 0 1350
DSG2 1 7 431 221 50 0 692
PKP2 32 23 371 244 38 0 690
DSC2 0 2 363 193 25 0 571
LMNA 7 12 197 154 18 0 378
TMEM43 1 1 225 130 21 0 371
TNNT2 9 12 213 117 15 0 355
PRKAG2 1 3 176 153 21 0 340
TPM1 3 8 93 111 12 0 222
LOC126861897, MHRT, MYH7 1 1 139 65 7 0 208
TNNI3 8 11 103 65 9 0 191
ACTC1, GJD2-DT 1 1 50 99 3 0 152
MHRT, MYH7 0 3 79 54 5 0 138
MYL3 0 5 75 48 13 0 135
LOC126861898, MYH7 6 14 62 45 5 0 131
MYL2 1 4 70 47 12 0 129
LOC126806068, RYR2 0 1 80 41 6 0 128
FLNC 2 12 45 24 43 0 126
ACTN2 0 0 63 34 25 0 121
MYH6 0 1 36 44 39 0 117
RBM20 2 1 57 29 28 0 115
NEXN 0 1 55 12 15 0 82
LOC126806067, RYR2 0 1 51 16 7 0 72
LDB3 0 0 34 15 24 0 71
ABCC9 0 3 24 21 22 0 70
LAMA4 0 0 28 20 22 0 68
VCL 0 0 36 13 18 0 64
JUP 0 1 25 15 18 0 59
SCN5A 0 1 22 12 25 0 58
DES 1 4 22 7 12 0 46
CSRP3 0 6 24 9 4 0 43
MYLK2 0 1 14 8 18 0 40
LOC114827850, MYL2 1 2 21 10 5 0 36
LOC101927055, TTN 0 2 10 9 13 0 34
LMNA, LOC126805877 1 1 18 9 2 0 31
TTR 3 0 15 5 8 0 31
CASQ2 0 0 14 6 9 0 28
DSC2, DSCAS 0 0 18 9 2 0 28
LOC126861897, MYH7 0 0 22 5 0 0 27
LOC126806422, TTN 0 2 10 6 8 0 26
LOC129999660, PRKAG2 0 0 11 14 2 0 24
TNNC1 0 1 15 6 2 0 24
BAG3 0 0 7 7 9 0 23
DSG2, LOC130062340 0 0 16 7 1 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 4 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 7 1 0 16
LOC126806421, TTN 0 1 5 4 6 0 16
EMD 0 0 9 4 2 0 15
TCAP 0 0 7 4 3 0 14
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
SGCD 0 0 2 4 6 0 12
CEP85L, PLN 3 1 7 1 0 0 11
LOC126806429, TTN 0 0 3 5 3 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
DMD 0 0 0 2 5 0 7
MYPN 0 0 1 4 2 0 7
TRPM4 0 0 2 4 1 0 7
AKAP9 0 0 0 3 3 0 6
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
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
ALPK3 2 2 0 0 0 0 4
DNAAF3, TNNI3 0 0 0 0 4 0 4
LDB3, LOC110121486 0 0 4 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
JPH2 0 0 1 1 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, LOC121175350 0 0 0 1 0 0 1
ALPK3, LOC111718493 1 0 0 0 0 0 1
APOA1 0 0 0 1 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
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
LDB3, LOC130004243 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
NRAP 0 1 0 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

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Color Diagnostics, LLC DBA Color Health 133 89 5637 4065 452 0 10376
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 191 328 2167 1358 1230 0 5274
All of Us Research Program, National Institutes of Health 0 0 730 428 34 0 1192
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 25 37 3 12 63 0 140
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
Institute of Human Genetics, University of Wuerzburg 1 12 13 0 0 0 26
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 10 2 0 0 15
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
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 1 2 0 0 0 3
Clinical Genetics Laboratory, Region Ostergotland 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
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 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
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

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