ClinVar Miner

Variants studied for cardiac rhythm disease

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 risk factor not provided total
300 255 5864 4262 571 2 51 10752

Gene and significance breakdown #

Total genes and gene combinations: 120
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RYR2 86 119 2354 2222 213 0 11 4734
TRPM4 6 0 751 467 69 0 0 1226
TRDN 30 20 456 394 49 0 1 932
CASQ2 40 30 223 248 33 0 4 538
SCN1B 19 8 280 129 42 0 1 462
KCNA5 7 1 294 137 22 0 0 427
SCN5A 24 10 308 46 16 0 14 385
LOC126806068, RYR2 11 12 140 115 6 0 1 265
KCNQ1 21 14 122 37 8 0 5 203
GJA5 5 0 136 61 4 0 0 198
MYL4 4 7 103 67 8 0 0 188
KCNJ2 3 2 113 7 16 0 5 143
SCN2B 2 0 71 55 4 0 0 130
LOC114827827, NPPA 1 0 78 47 4 0 0 128
LOC126806067, RYR2 0 0 67 57 5 0 0 120
GJA5, LOC122128420 2 0 44 15 1 0 0 62
ABCC9 2 0 48 9 1 0 1 61
CALM1 3 2 10 42 6 0 2 61
LOC110121269, SCN5A 1 1 41 4 3 0 1 47
TTN 1 1 11 16 12 0 0 41
CACNA1D 2 3 14 8 12 0 0 37
KCNE2, LOC105372791 1 1 25 3 2 0 2 31
CASQ2, VANGL1 0 0 0 21 8 0 0 24
CALM1, LOC126862021 5 1 3 13 0 0 0 22
DSP 2 2 13 0 1 0 0 18
KCNQ1, KCNQ1OT1 0 0 8 8 2 0 0 18
ANK2 0 1 8 1 2 0 2 14
AKAP9 0 0 8 3 2 0 0 13
TECRL 3 5 4 0 0 0 0 11
KCNH2 0 0 7 0 2 0 1 10
CACNA1C 0 2 7 0 0 0 0 9
CALM3 3 0 2 0 4 0 0 9
DPP6 0 0 6 0 2 1 0 9
PKP2 1 1 6 1 0 0 0 9
CACNB2 0 0 5 2 1 0 0 8
DSG2 0 1 6 0 0 0 0 7
HCN4 0 0 6 0 1 0 0 7
MYBPC3 1 0 5 1 0 0 0 7
NPPA 1 0 1 4 1 0 0 7
NUP155 1 0 3 0 1 0 0 5
RBM20 0 0 4 0 1 0 0 5
SCN3B 4 0 1 0 0 0 0 5
LOC126861897, MHRT, MYH7 0 0 3 1 0 0 0 4
MYH6 0 1 3 1 0 0 0 4
MYH7 0 1 1 2 0 0 0 4
SNTA1 0 1 2 1 0 0 0 4
ACTN2, MT1HL1, MTR, RYR2 0 0 3 0 0 0 0 3
ANK2, LOC126807137 0 0 3 0 0 0 0 3
CALM1, LOC130056272 0 0 0 3 0 0 0 3
JUP 0 0 3 0 0 0 0 3
KCNJ2, LOC130061539 0 0 3 0 0 0 0 3
LAMA4 0 0 2 1 0 0 0 3
SCN4B 2 0 1 0 0 0 0 3
VCL 0 0 2 1 0 0 0 3
ANK2, LOC126807136 0 0 2 0 0 0 0 2
BAG3 0 0 0 0 2 0 0 2
CACNA2D1 0 1 0 1 0 0 0 2
DMD 0 0 2 0 0 0 0 2
HRC, TRPM4 2 0 2 2 0 0 0 2
LOC126806066, RYR2 0 0 2 0 0 0 0 2
MYLK2 0 0 1 1 0 0 0 2
MYOM1 0 0 2 0 0 0 0 2
NEBL 0 0 2 0 0 0 0 2
TMEM43 0 0 0 0 2 0 0 2
ACTN2 0 0 1 0 0 0 0 1
AGTRAP, ANGPTL7, C1orf127, C1orf167, CASZ1, CLCN6, DISP3, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, MAD2L2, MASP2, MTHFR, MTOR, NPPA, SRM, TARDBP, UBIAD1 0 0 1 0 0 0 0 1
AGTRAP, ANGPTL7, C1orf167, CLCN6, DISP3, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, KIAA2013, MAD2L2, MASP2, MTHFR, MTOR, NPPA, NPPB, PLOD1, SRM, TARDBP, UBIAD1 0 0 1 0 0 0 0 1
AKAP10 0 0 1 0 0 0 0 1
ALKBH6, APLP1, ARHGAP33, ATP4A, CAPNS1, CD22, CLIP3, COX6B1, COX7A1, DMKN, ETV2, FAM187B, FFAR1, FFAR2, FFAR3, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GPR42, HAMP, HAUS5, HCST, HPN, HSPB6, IGFLR1, KIRREL2, KMT2B, KRTDAP, LGI4, LIN37, LRFN3, LSR, MAG, NFKBID, NPHS1, OVOL3, POLR2I, PRODH2, PROSER3, PSENEN, RBM42, SBSN, SCN1B, SDHAF1, SYNE4, TBCB, THAP8, TMEM147, TYROBP, U2AF1L4, UPK1A, USF2, WDR62, ZBTB32 0 0 1 0 0 0 0 1
ATP1A1, CASQ2, LINC01649, MAB21L3, NHLH2, SLC22A15 0 0 1 0 0 0 0 1
C19orf73, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, GYS1, HRC, KCNA7, LHB, LIN7B, NTF4, PPFIA3, RUVBL2, SNRNP70, TRPM4 0 0 1 0 0 0 0 1
CACNA1D, LOC129936904 0 0 1 0 0 0 0 1
CALM1, LOC112272566 0 0 0 0 1 0 0 1
CEP85L, PLN 0 1 0 0 0 0 0 1
CORIN 1 0 0 0 0 0 0 1
DMPK 0 0 1 0 0 0 0 1
DSC2 0 0 0 1 0 0 0 1
DTNA 0 0 1 0 0 0 0 1
EYA4 0 0 0 1 0 0 0 1
FKTN 0 0 0 1 0 0 0 1
FLNC 0 1 0 0 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 1 0 0 0 0 0 1
GAA 0 0 0 1 0 0 0 1
GPD1L 0 0 1 0 0 0 0 1
HCN4, LOC105370890 0 0 1 0 0 0 0 1
JPH2 0 0 1 0 0 0 0 1
KCNA1, KCNA5 0 0 1 0 0 0 0 1
KCNE3, LIPT2 0 0 1 0 0 0 0 1
KCNJ8 0 0 1 0 0 0 0 1
LDB3 0 0 0 1 0 0 0 1
LMNA 0 0 1 0 0 0 0 1
LMNA, LOC129931597 0 0 1 0 0 0 0 1
LOC101927055, TTN 0 0 0 1 0 0 0 1
LOC126806067, LOC126806068, MIR4428, RYR2 0 0 1 0 0 0 0 1
LOC126806067, LOC126806068, RYR2 0 0 1 0 0 0 0 1
LOC126806422, TTN 0 0 0 0 1 0 0 1
LOC126806424, TTN 0 0 0 1 0 0 0 1
LOC126806430, TTN 0 0 0 0 1 0 0 1
LOC126861896, MYH6 0 0 1 0 0 0 0 1
LOC126861898, MYH7 0 1 0 0 0 0 0 1
LOC129389631, LOC129389632, LOC129389633, TRDN 0 0 1 0 0 0 0 1
LOC129389631, TRDN 0 0 1 0 0 0 0 1
LOC130057222, TPM1 0 0 0 1 0 0 0 1
MHRT, MYH7 0 0 1 0 0 0 0 1
MT-TT 0 0 1 0 0 0 0 1
NKX2-5 1 0 0 0 0 0 0 1
PITX2 0 1 0 0 0 0 0 1
PRKAG2 0 0 1 0 0 0 0 1
PTPN11 0 1 0 0 0 0 0 1
RAF1 0 0 1 0 0 0 0 1
SLMAP 0 0 1 0 0 0 0 1
SOS1 0 0 1 0 0 0 0 1
SYNE1 0 1 0 0 0 0 0 1
TCAP 0 0 1 0 0 0 0 1
TET2 1 0 0 0 0 0 0 1
TNNI3 0 0 1 0 0 0 0 1
TNNT2 0 0 1 0 0 0 0 1
TTR 0 0 1 0 0 0 0 1
TWNK 1 0 0 0 0 0 0 1
ZFHX3 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 94
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 173 110 4470 3929 393 0 0 9075
Illumina Laboratory Services, Illumina 0 0 841 247 185 0 0 1151
Fulgent Genetics, Fulgent Genetics 37 28 733 77 14 0 0 889
Genome-Nilou Lab 1 16 87 35 75 0 0 214
Blueprint Genetics 1 18 94 7 0 0 0 120
OMIM 86 0 0 0 0 2 0 88
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 1 3 23 35 26 0 0 88
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 16 13 18 0 0 47
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 6 33 2 0 0 0 44
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 39 0 0 0 0 43
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 15 19 0 0 0 0 37
Baylor Genetics 6 6 23 0 0 0 0 35
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 9 14 1 0 0 0 34
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 29 29
New York Genome Center 0 1 24 0 0 0 0 25
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 18 1 0 0 0 24
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 2 16 2 2 0 0 23
Revvity Omics, Revvity 1 8 12 0 0 0 0 21
Mendelics 0 2 6 3 6 0 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 3 10 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 1 5 6 2 0 0 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 1 11 0 0 14
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 5 4 3 0 0 13
CSER _CC_NCGL, University of Washington 0 0 9 2 0 0 0 11
MGZ Medical Genetics Center 1 0 9 0 0 0 0 10
GeneReviews 0 0 0 0 0 0 10 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 1 3 0 0 9
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 8 0 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 6 0 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 8 0 0 8
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 7 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 7 7
Cohesion Phenomics 0 0 0 7 0 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 6 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 4 0 0 0 0 6
Center for Human Genetics, University of Leuven 0 3 3 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 3 0 0 0 0 5
Department of Legal Medicine, University of Toyama 4 1 0 0 0 0 0 5
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 5 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 0 0 0 0 0 4
Center for Medical Genetics Ghent, University of Ghent 1 3 0 0 0 0 0 4
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 1 1 2 0 0 0 0 4
Phosphorus, Inc. 0 0 4 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 3 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 0 3
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 2 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 0 0 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 3 0 0 0 0 0 3
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 2 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 0 2
Nyegaard lab; Aarhus University 2 0 0 0 0 0 0 2
Centre of Medical Genetics, University of Antwerp 0 1 1 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 0 2
3billion 1 1 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
King Laboratory, University of Washington 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 0 1
Toronto General Hospital, University of Toronto 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 0 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 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 0 1
Pathophysiology of Heart Rhythm Disorders, Université Lyon 1 Claude Bernard 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
Clinical Research Group, BGI genomics 0 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 0 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 1 0 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Molecular and Cytogenetics Laboratory, Americain University of Beirut Medical Center 0 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 1
Razi Pathobiology & Medical Genetics 0 0 0 0 1 0 0 1

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