ClinVar Miner

Variants studied for Primary dilated cardiomyopathy

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
133 598 1932 922 199 9 3736

Gene and significance breakdown #

Total genes and gene combinations: 175
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NEBL 0 1 563 331 52 0 947
TXNRD2 0 0 289 245 43 0 576
TTN 36 356 120 33 24 1 554
LMNA 22 34 255 120 11 0 433
C2orf49, FHL2 0 0 108 65 14 0 186
MYH7 7 25 33 2 0 0 60
DSP 8 20 23 5 0 0 55
ANKRD1 0 0 31 12 6 0 46
FHL2 0 0 32 10 3 0 45
RBM20 7 7 22 5 4 1 42
FLNC 9 6 21 1 0 0 37
LOC130066960, TXNRD2 0 0 23 11 3 0 37
SCN5A 1 3 18 2 8 6 35
LMNA, LOC126805877 2 7 15 5 1 0 29
TNNT2 5 18 8 0 0 0 29
LOC126860875, NEBL 0 0 15 11 1 0 27
MYBPC3 2 3 13 3 2 0 23
TPM1 3 12 9 0 0 0 23
BAG3 4 8 7 1 1 0 20
TAFAZZIN 1 1 11 6 1 0 20
VCL 0 6 10 3 1 0 20
COMT, TXNRD2 0 0 15 4 0 0 19
MYH6 0 0 14 2 0 0 16
DMD 0 0 9 6 1 0 15
LMNA, LOC129931597 1 1 9 3 1 0 15
MYPN 0 1 11 3 0 0 14
NEXN 0 2 10 0 0 0 11
LOC126806422, TTN 1 8 0 1 0 0 10
MHRT, MYH7 0 3 8 0 0 0 10
JUP 0 1 7 1 0 0 9
RYR2 0 0 9 0 0 0 9
TNNI3 2 3 5 0 0 0 9
CSRP3 2 4 1 0 1 0 8
DES 2 1 4 0 1 0 8
LAMA2 0 1 7 0 0 0 8
LAMA4 0 0 7 1 0 0 8
LOC126806423, TTN 1 6 0 1 0 0 8
ACTC1, GJD2-DT 0 2 4 1 0 0 7
DSG2 1 1 4 1 0 0 7
LOC126806421, TTN 0 4 3 0 0 0 7
LOC126806425, TTN 1 4 0 1 1 0 7
LOC126861898, MYH7 0 6 2 0 0 0 7
PKP2 0 0 6 1 0 0 7
PPP1R13L 0 5 2 0 0 0 7
SOS1 0 0 7 0 0 0 7
ABCC9 0 0 5 0 1 0 6
DSC2 0 0 5 1 0 0 6
JPH2 1 0 5 0 0 0 6
LAMP2 2 2 2 0 0 0 6
LOC126806424, TTN 0 4 0 2 0 0 6
TBX20 1 0 4 1 0 0 6
ABCC9, KCNJ8 0 0 4 1 0 0 5
CTNNA3 0 0 5 0 0 0 5
FHOD3 0 1 4 0 0 0 5
LOC101927055, TTN 0 4 1 0 0 0 5
PRDM16 0 0 4 1 0 0 5
SGCD 1 0 3 1 0 0 5
TMPO 0 0 3 2 0 0 5
CEP85L, PLN 3 0 2 0 0 0 4
DTNA 0 1 3 0 0 0 4
FPGT-TNNI3K, TNNI3K 0 0 4 0 0 0 4
LDB3 0 0 3 1 0 0 4
LOC110121269, SCN5A 0 0 1 0 3 0 4
LOC126806427, TTN 0 2 1 0 1 0 4
LOC126861897, MHRT, MYH7 0 0 4 0 0 0 4
TCAP 0 2 1 1 0 0 4
AKAP9 0 0 2 0 1 0 3
ANK2 0 0 1 1 1 0 3
CASZ1 2 0 1 0 0 0 3
GAA 0 0 0 0 3 0 3
LOC126806420, TTN 0 3 0 0 0 0 3
LOC126806426, TTN 0 3 0 0 0 0 3
LOC126806433, TTN 0 0 2 1 0 0 3
MYL2 0 1 2 0 0 0 3
PRKAG2 0 0 3 0 0 0 3
RAF1 1 0 2 0 0 0 3
SGCB 0 0 1 2 0 0 3
TNNC1 0 0 3 0 0 0 3
ACTA1 0 2 0 0 0 0 2
ACTN2 0 0 1 1 0 0 2
BRAF 0 1 0 1 0 0 2
C10orf71 0 1 1 0 0 0 2
CACNA1C 0 0 2 0 0 0 2
CALR3 0 0 1 0 1 0 2
CRYAB 0 0 2 0 0 0 2
CTF1, LOC130058878 0 0 2 0 0 0 2
DNASE1L1, LOC130068869, TAFAZZIN 0 0 1 1 0 0 2
FKTN 0 0 2 0 0 0 2
GATA4 0 0 2 0 0 0 2
GATA6 0 1 1 0 0 0 2
LDB3, LOC110121486 0 0 1 0 1 0 2
LOC126806430, TTN 0 0 1 0 1 0 2
LOC129992585, SGCB 1 0 1 0 0 0 2
MYLK3 0 0 1 0 0 1 2
NRAP 0 1 1 0 0 0 2
PDLIM3 0 0 2 0 0 0 2
PLEC 0 0 2 0 0 0 2
SYNE2 0 0 2 0 0 0 2
TBX5 0 1 0 1 0 0 2
TMEM43 1 0 1 0 0 0 2
ZBTB17 0 0 2 0 0 0 2
ACADVL 0 0 1 0 0 0 1
ACTN2, EDARADD, HEATR1, LGALS8, LOC108004528, LOC110121264, LOC110121265, LOC110121266, LOC112577561, LOC122152346, LOC122152347, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129932878, LOC129932879, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, MT1HL1, MTR, RYR2 0 0 1 0 0 0 1
AFF4 0 0 1 0 0 0 1
ANK2, LOC126807137 0 0 1 0 0 0 1
ARVCF, COMT, GNB1L, RTL10, TANGO2, TBX1, TXNRD2 0 0 1 0 0 0 1
ARVCF, COMT, TXNRD2 0 0 1 0 0 0 1
ASIC4, SPEG 0 0 1 0 0 0 1
CACNB2 0 0 1 0 0 0 1
CASQ2 0 0 0 1 0 0 1
CAVIN4 0 0 1 0 0 0 1
CDH2 0 0 1 0 0 0 1
CHD7 0 0 1 0 0 0 1
COL1A1 0 0 1 0 0 0 1
COL6A3 0 0 1 0 0 0 1
COMT, GNB1L, LOC110120888, LOC126863098, LOC130066959, LOC130066960, RTL10, TBX1, TXNRD2 0 0 1 0 0 0 1
COMT, LOC126863098, LOC130066960, TXNRD2 0 0 1 0 0 0 1
COMT, LOC130066960, TXNRD2 0 0 1 0 0 0 1
DGKD 0 0 1 0 0 0 1
DOLK 0 0 1 0 0 0 1
DPP6 0 0 1 0 0 0 1
DYSF 0 0 1 0 0 0 1
EMD 0 0 1 0 0 0 1
EYA4 0 0 1 0 0 0 1
FBN1 0 1 0 0 0 0 1
FBN2 0 0 1 0 0 0 1
FKRP 0 0 1 0 0 0 1
FLII 0 1 0 0 0 0 1
GCOM1, MYZAP 0 1 0 0 0 0 1
GPD1L 0 0 1 0 0 0 1
GSK3A, LOC130064563 0 0 1 0 0 0 1
GSK3B 0 0 1 0 0 0 1
HCN4 0 0 1 0 0 0 1
ILK, TAF10 0 0 1 0 0 0 1
KCND3 0 0 0 0 1 0 1
KCNE1 0 1 0 0 0 0 1
KCNE2, LOC105372791 0 0 1 0 0 0 1
KCNH2 0 0 0 1 0 0 1
KDM6A 0 0 1 0 0 0 1
LAMA4, LOC126859766 0 0 0 0 1 0 1
LOC114827850, MYL2 0 0 1 0 0 0 1
LOC114827851, MYH6 0 0 0 1 0 0 1
LOC126806067, RYR2 0 0 1 0 0 0 1
LOC126806068, RYR2 0 0 1 0 0 0 1
LOC126806428, TTN 0 0 1 0 0 0 1
LOC126806429, TTN 0 0 0 0 1 0 1
LOC126806431, TTN 0 0 0 1 0 0 1
LOC126806432, TTN 0 0 1 0 0 0 1
LOC126859827, TAB2 1 0 0 0 0 0 1
LOC126861356, SCN4B 0 0 1 0 0 0 1
LOC126861896, MYH6 0 0 0 0 1 0 1
LOC126861897, MHRT, MIR208B, MYH7 0 1 0 0 0 0 1
LOC126862085, TJP1 0 0 1 0 0 0 1
LOC129935182, TTN 0 1 0 0 0 0 1
LOC129935183, TTN 0 1 0 0 0 0 1
LOC129935186, TTN 0 0 1 0 0 0 1
LZTR1 0 0 1 0 0 0 1
MIB1 0 0 1 0 0 0 1
MYH14 0 0 1 0 0 0 1
MYH8, MYHAS 0 0 0 0 1 0 1
MYOM1 0 0 1 0 0 0 1
NCAPH2, SCO2 0 1 0 0 0 0 1
NEDD4L 0 0 1 0 0 0 1
NKX2-5 0 0 1 0 0 0 1
PSEN2 0 0 1 0 0 0 1
SCN2B 0 0 1 0 0 0 1
SDHA 0 0 1 0 0 0 1
SGCG 0 0 0 1 0 0 1
SNTA1 0 0 0 0 1 0 1
STK38 0 0 1 0 0 0 1
SYNE1 0 0 1 0 0 0 1
TAF1A 0 0 1 0 0 0 1
TGFB3 0 0 0 1 0 0 1
TRPM4 0 0 1 0 0 0 1
TSFM 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 1044 677 116 0 1837
All of Us Research Program, National Institutes of Health 11 14 274 126 7 0 432
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 42 257 17 1 0 0 317
Blueprint Genetics 8 49 125 9 0 0 191
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 102 64 0 0 6 169
Genetics and Genomics Program, Sidra Medicine 0 4 94 47 0 0 145
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 8 6 10 29 43 0 96
Illumina Laboratory Services, Illumina 1 10 39 17 4 0 71
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 3 5 38 0 0 0 46
Lildballe Lab, Aarhus University Hospital 9 33 2 0 0 0 44
Research Unit of Cardiovascular and Metabolic Disease, Inserm 1 43 0 0 0 0 44
Center for Human Genetics, University of Leuven 5 28 7 1 0 0 41
Molecular Genetics, Royal Melbourne Hospital 9 14 16 1 0 0 40
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 4 17 2 0 0 33
Klaassen Lab, Charite University Medicine Berlin 1 2 26 0 0 0 29
CSER _CC_NCGL, University of Washington 0 1 18 7 1 0 27
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 11 7 5 0 24
Loeys Lab, Universiteit Antwerpen 11 0 13 0 0 0 24
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 6 17 0 0 0 24
University of Washington Center for Mendelian Genomics, University of Washington 0 2 21 0 0 0 23
ClinGen Cardiomyopathy Variant Curation Expert Panel 3 4 15 0 0 0 22
Cohesion Phenomics 0 0 0 1 20 0 21
Institute of Human Genetics, University of Wuerzburg 4 5 12 0 0 0 21
Clinical Genetics Laboratory, Skane University Hospital Lund 4 5 6 0 0 0 15
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 1 11 0 1 0 14
Genetics and Molecular Pathology, SA Pathology 4 1 4 0 0 0 9
Phosphorus, Inc. 0 0 8 1 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 2 5 0 0 0 8
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 5 0 1 0 7
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 4 0 2 0 7
Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust 0 5 2 0 0 0 7
Cytogenetics- Mohapatra Lab, Banaras Hindu University 2 4 0 0 0 0 6
KTest Genetics, KTest 2 4 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 4 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 5 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 4 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
Heart Failure and Familial Heart Diseases Unit, Hospital Universitario Virgen de la Victoria 0 1 2 0 0 0 3
ITMI 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Harry Perkins Institute Of Medical Research, University Of Western Australia 0 2 0 0 0 0 2
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genotypic Technology Pvt Ltd 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 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 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
emedgene Technologies 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.