ClinVar Miner

Variants studied for Primary dilated 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 likely risk allele uncertain risk allele not provided total
102 539 1643 745 198 1 1 8 3187

Gene and significance breakdown #

Total genes and gene combinations: 165
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
NEBL 0 1 440 251 52 0 0 0 744
TTN 25 320 114 33 24 0 0 1 502
TXNRD2 0 0 241 197 43 0 0 0 480
LMNA 19 31 224 98 11 1 1 0 378
C2orf49, FHL2 0 0 85 47 14 0 0 0 145
MYH7 7 24 27 2 0 0 0 0 53
ANKRD1 0 0 32 12 6 0 0 0 47
DSP 4 17 22 4 0 0 0 0 47
RBM20 6 8 22 5 4 0 0 1 42
FHL2 0 0 28 8 3 0 0 0 39
SCN5A 1 3 16 2 8 0 0 6 33
LOC130066960, TXNRD2 0 0 19 9 3 0 0 0 31
LMNA, LOC126805877 2 7 13 5 1 0 0 0 27
TNNT2 5 14 7 0 0 0 0 0 25
FLNC 4 4 13 1 0 0 0 0 22
LOC126860875, NEBL 0 0 13 8 1 0 0 0 22
MYBPC3 2 3 12 3 2 0 0 0 22
BAG3 4 8 7 1 1 0 0 0 20
TAFAZZIN 1 1 11 6 1 0 0 0 20
TPM1 2 11 8 0 0 0 0 0 20
VCL 0 6 10 3 1 0 0 0 20
MYH6 0 0 14 2 0 0 0 0 16
COMT, TXNRD2 0 0 12 3 0 0 0 0 15
DMD 0 0 9 6 1 0 0 0 15
MYPN 0 1 12 3 0 0 0 0 15
LMNA, LOC129931597 1 1 8 2 1 0 0 0 13
NEXN 0 2 9 0 0 0 0 0 11
MHRT, MYH7 0 3 7 0 0 0 0 0 10
ABCC9 0 0 7 1 1 0 0 0 9
DES 2 2 4 0 1 0 0 0 9
JUP 0 1 7 1 0 0 0 0 9
LOC126806422, TTN 1 7 0 1 0 0 0 0 9
RYR2 0 0 9 0 0 0 0 0 9
CSRP3 2 4 1 0 1 0 0 0 8
LAMA2 0 1 7 0 0 0 0 0 8
LOC126806423, TTN 1 5 1 1 0 0 0 0 8
TNNI3 2 3 4 0 0 0 0 0 8
DSG2 1 1 4 1 0 0 0 0 7
LAMA4 0 0 6 1 0 0 0 0 7
PKP2 0 0 6 1 0 0 0 0 7
PPP1R13L 0 5 2 0 0 0 0 0 7
SOS1 0 0 7 0 0 0 0 0 7
DSC2 0 0 5 1 0 0 0 0 6
JPH2 0 0 6 0 0 0 0 0 6
LOC126806424, TTN 0 4 0 2 0 0 0 0 6
PRDM16 0 0 5 1 0 0 0 0 6
ACTC1, GJD2-DT 0 2 2 1 0 0 0 0 5
CTNNA3 0 0 5 0 0 0 0 0 5
LAMP2 1 2 2 0 0 0 0 0 5
LDB3 0 0 3 2 0 0 0 0 5
LOC101927055, TTN 0 4 1 0 0 0 0 0 5
LOC126806421, TTN 0 2 3 0 0 0 0 0 5
LOC126806425, TTN 0 3 0 1 1 0 0 0 5
LOC126861898, MYH7 0 4 2 0 0 0 0 0 5
TMPO 0 0 3 2 0 0 0 0 5
CEP85L, PLN 3 0 2 0 0 0 0 0 4
DTNA 0 1 3 0 0 0 0 0 4
FPGT-TNNI3K, TNNI3K 0 0 4 0 0 0 0 0 4
LOC110121269, SCN5A 0 0 1 0 3 0 0 0 4
LOC126806427, TTN 0 2 1 0 1 0 0 0 4
LOC126861897, MHRT, MYH7 0 0 4 0 0 0 0 0 4
SGCD 0 0 3 1 0 0 0 0 4
TBX20 0 0 3 1 0 0 0 0 4
TCAP 0 2 1 1 0 0 0 0 4
AKAP9 0 0 2 0 1 0 0 0 3
ANK2 0 0 1 1 1 0 0 0 3
GAA 0 0 0 0 3 0 0 0 3
LOC126806420, TTN 0 3 0 0 0 0 0 0 3
LOC126806433, TTN 0 0 2 1 0 0 0 0 3
MYL2 0 1 2 0 0 0 0 0 3
SGCB 0 0 1 2 0 0 0 0 3
TNNC1 0 0 3 0 0 0 0 0 3
ACTA1 0 2 0 0 0 0 0 0 2
ACTN2 0 0 1 1 0 0 0 0 2
BRAF 0 1 0 1 0 0 0 0 2
CALR3 0 0 1 0 1 0 0 0 2
CASZ1 1 0 1 0 0 0 0 0 2
CRYAB 0 0 2 0 0 0 0 0 2
DNASE1L1, LOC130068869, TAFAZZIN 0 0 1 1 0 0 0 0 2
FHOD3 0 0 2 0 0 0 0 0 2
LDB3, LOC110121486 0 0 1 0 1 0 0 0 2
LOC126806426, TTN 0 2 0 0 0 0 0 0 2
LOC126806430, TTN 0 0 1 0 1 0 0 0 2
LOC129992585, SGCB 1 0 1 0 0 0 0 0 2
PDLIM3 0 0 2 0 0 0 0 0 2
PLEC 0 0 2 0 0 0 0 0 2
PRKAG2 0 0 2 0 0 0 0 0 2
RAF1 1 0 1 0 0 0 0 0 2
SYNE2 0 0 2 0 0 0 0 0 2
TBX5 0 1 0 1 0 0 0 0 2
TMEM43 1 0 1 0 0 0 0 0 2
ACADVL 0 0 1 0 0 0 0 0 1
AFF4 0 0 1 0 0 0 0 0 1
ANK2, LOC126807137 0 0 1 0 0 0 0 0 1
ARVCF, COMT, TXNRD2 0 0 1 0 0 0 0 0 1
CACNA1C 0 0 1 0 0 0 0 0 1
CACNB2 0 0 1 0 0 0 0 0 1
CASQ2 0 0 0 1 0 0 0 0 1
CAVIN4 0 0 1 0 0 0 0 0 1
CDH2 0 0 1 0 0 0 0 0 1
CHD7 0 0 1 0 0 0 0 0 1
COL1A1 0 0 1 0 0 0 0 0 1
COMT, GNB1L, LOC110120888, LOC126863098, LOC130066959, LOC130066960, RTL10, TBX1, TXNRD2 0 0 1 0 0 0 0 0 1
COMT, LOC126863098, LOC130066960, TXNRD2 0 0 1 0 0 0 0 0 1
COMT, LOC130066960, TXNRD2 0 0 1 0 0 0 0 0 1
CTF1, LOC130058878 0 0 1 0 0 0 0 0 1
DGKD 0 0 1 0 0 0 0 0 1
DOLK 0 0 1 0 0 0 0 0 1
DPP6 0 0 1 0 0 0 0 0 1
DYSF 0 0 1 0 0 0 0 0 1
EMD 0 0 1 0 0 0 0 0 1
EYA4 0 0 1 0 0 0 0 0 1
FBN1 0 1 0 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 0 0 1
FKRP 0 0 1 0 0 0 0 0 1
FKTN 0 0 1 0 0 0 0 0 1
FLII 0 1 0 0 0 0 0 0 1
GATA4 0 0 1 0 0 0 0 0 1
GATA6 0 1 0 0 0 0 0 0 1
GCOM1, MYZAP 0 1 0 0 0 0 0 0 1
GPD1L 0 0 1 0 0 0 0 0 1
GSK3A, LOC130064563 0 0 1 0 0 0 0 0 1
GSK3B 0 0 1 0 0 0 0 0 1
HCN4 0 0 1 0 0 0 0 0 1
ILK, TAF10 0 0 1 0 0 0 0 0 1
KCND3 0 0 0 0 1 0 0 0 1
KCNE1 0 1 0 0 0 0 0 0 1
KCNE2, LOC105372791 0 0 1 0 0 0 0 0 1
KCNH2 0 0 0 1 0 0 0 0 1
LAMA4, LOC126859766 0 0 0 0 1 0 0 0 1
LOC114827850, MYL2 0 0 1 0 0 0 0 0 1
LOC114827851, MYH6 0 0 0 1 0 0 0 0 1
LOC126806067, RYR2 0 0 1 0 0 0 0 0 1
LOC126806068, RYR2 0 0 1 0 0 0 0 0 1
LOC126806428, TTN 0 0 1 0 0 0 0 0 1
LOC126806429, TTN 0 0 0 0 1 0 0 0 1
LOC126806431, TTN 0 0 0 1 0 0 0 0 1
LOC126806432, TTN 0 0 1 0 0 0 0 0 1
LOC126859827, TAB2 1 0 0 0 0 0 0 0 1
LOC126861356, SCN4B 0 0 1 0 0 0 0 0 1
LOC126861896, MYH6 0 0 0 0 1 0 0 0 1
LOC126861897, MHRT, MIR208B, MYH7 0 1 0 0 0 0 0 0 1
LOC129935182, TTN 0 1 0 0 0 0 0 0 1
LOC129935183, TTN 0 1 0 0 0 0 0 0 1
LOC129935186, TTN 0 0 1 0 0 0 0 0 1
LZTR1 0 0 1 0 0 0 0 0 1
MAP3K7 0 0 1 0 0 0 0 0 1
MYH14 0 0 1 0 0 0 0 0 1
MYOM1 0 0 1 0 0 0 0 0 1
NCAPH2, SCO2 0 1 0 0 0 0 0 0 1
NEDD4L 0 0 1 0 0 0 0 0 1
NKX2-5 0 0 1 0 0 0 0 0 1
NRAP 0 0 1 0 0 0 0 0 1
PSEN2 0 0 1 0 0 0 0 0 1
SCN2B 0 0 1 0 0 0 0 0 1
SDHA 0 0 1 0 0 0 0 0 1
SGCG 0 0 0 1 0 0 0 0 1
SNTA1 0 0 0 0 1 0 0 0 1
STK38 0 0 1 0 0 0 0 0 1
SYNE1 0 0 1 0 0 0 0 0 1
TAF1A 0 0 1 0 0 0 0 0 1
TGFB3 0 0 0 1 0 0 0 0 1
TRPM4 0 0 1 0 0 0 0 0 1
TSFM 1 0 0 0 0 0 0 0 1
ZBTB17 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Invitae 0 0 835 523 116 0 0 0 1474
All of Us Research Program, National Institutes of Health 9 8 239 103 7 0 0 0 366
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 42 257 17 1 0 0 0 0 317
Blueprint Genetics 8 49 125 9 0 0 0 0 191
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 102 64 0 0 0 0 6 169
Genetics and Genomics Program, Sidra Medicine 0 4 94 47 0 0 0 0 145
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 8 6 10 29 43 0 0 0 96
Illumina Laboratory Services, Illumina 0 1 40 17 4 0 0 0 62
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 1 5 40 0 0 0 0 0 46
Research Unit of Cardiovascular and Metabolic Disease, Inserm 1 43 0 0 0 0 0 0 44
Center for Human Genetics, University of Leuven 5 28 7 1 0 0 0 0 41
Molecular Genetics, Royal Melbourne Hospital 6 11 12 1 0 0 0 0 30
Klaassen Lab, Charite University Medicine Berlin 1 2 26 0 0 0 0 0 29
CSER _CC_NCGL, University of Washington 0 1 18 7 1 0 0 0 27
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 11 7 5 0 0 0 24
Loeys Lab, Universiteit Antwerpen 11 0 13 0 0 0 0 0 24
University of Washington Center for Mendelian Genomics, University of Washington 0 2 21 0 0 0 0 0 23
Institute of Human Genetics, University of Wuerzburg 4 5 12 0 0 0 0 0 21
Cohesion Phenomics 0 0 0 1 20 0 0 0 21
ClinGen Cardiomyopathy Variant Curation Expert Panel 3 3 9 0 0 0 0 0 15
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 2 9 0 1 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 8 1 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 4 1 4 0 0 0 0 0 9
Phosphorus, Inc. 0 0 8 1 0 0 0 0 9
New York Genome Center 1 2 6 0 0 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 2 5 0 0 0 0 0 8
Exeter Molecular Genetics Laboratory 0 5 2 0 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 1 4 0 0 0 7
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 3 0 2 1 1 0 7
Cytogenetics- Mohapatra Lab, Banaras Hindu University 2 4 0 0 0 0 0 0 6
KTest Genetics, KTest 2 4 0 0 0 0 0 0 6
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 2 3 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 4 0 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 3 0 0 0 0 0 4
ITMI 0 0 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 0 0 3
Heart Failure and Familial Heart Diseases Unit, Hospital Universitario Virgen de la Victoria 0 1 2 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 0 2
Harry Perkins Institute Of Medical Research, University Of Western Australia 0 2 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 0 2
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 1 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 0 1
emedgene Technologies 1 0 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 1 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department, Stanford University 0 1 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 0 1
Genotypic Technology Pvt Ltd 0 1 0 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 0 0 1

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