ClinVar Miner

Variants studied for heart conduction disease

Included ClinVar conditions (98):
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
425 408 9262 6285 918 1 263 16641

Gene and significance breakdown #

Total genes and gene combinations: 135
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RYR2 84 121 3071 2409 218 0 11 5488
HCN4 10 8 774 518 65 0 0 1359
TRPM4 6 0 755 469 69 0 0 1232
SCN10A 0 1 598 427 48 0 0 1068
SCN5A 90 119 498 167 55 0 216 958
TRDN 33 25 458 394 49 0 1 938
CACNB2 2 0 303 246 37 0 2 572
CASQ2 43 32 223 248 33 0 4 542
CACNA2D1 0 1 207 261 52 0 0 520
SCN1B 18 7 281 129 42 0 1 464
KCNJ2 33 11 250 119 46 0 2 454
SLMAP 0 0 180 149 30 0 0 359
LOC126806068, RYR2 10 12 181 122 7 0 1 306
GPD1L 4 0 117 113 14 0 2 237
KCNQ1 21 17 103 27 38 0 1 202
MYH6 0 1 149 31 5 1 0 187
KCNH2 18 5 133 15 1 0 5 175
LOC110121288, SCN10A 0 0 79 54 15 0 0 148
CACNA1C 3 3 108 25 5 0 6 145
LOC126806067, RYR2 0 0 89 61 6 0 0 140
PRKAG2 1 0 96 16 11 0 0 123
SCN3B 4 1 67 37 10 0 1 115
KCNJ8 0 0 66 37 10 0 0 113
HCN4, LOC105370890, LOC126862173 2 0 52 44 1 0 0 98
LOC110121269, SCN5A 4 9 63 11 8 0 8 88
KCNE3 1 0 53 13 4 0 0 69
KCNE5 0 0 41 22 4 0 0 67
CALM1 3 2 11 42 6 0 2 62
LOC114827851, MYH6 0 0 28 2 0 0 0 30
CASQ2, VANGL1 0 0 0 21 8 0 0 24
LOC126861896, MYH6 0 0 19 3 2 0 0 24
KCND3 3 3 16 5 0 0 0 23
CALM1, LOC126862021 5 1 3 13 0 0 0 22
TTN 1 3 13 3 1 0 0 21
KCNQ1, KCNQ1OT1 0 0 5 7 5 0 0 17
TECRL 6 5 4 0 0 0 0 14
ANK2 0 1 11 1 0 0 0 12
GPD1L, LOC129936414 0 0 9 3 0 0 0 12
MYBPC3 1 2 9 0 0 0 0 12
HCN4, LOC105370890 1 0 5 6 0 0 0 11
CALM3 4 0 2 0 4 0 0 10
SLC6A2 1 0 8 1 0 0 0 10
DSP 1 1 6 0 1 0 0 9
ACTN2, MT1HL1, MTR, RYR2 0 0 6 0 0 0 0 6
LAMA4 0 0 5 0 0 0 0 5
LOC129999660, PRKAG2 0 0 5 0 0 0 0 5
RHBDF1 0 0 5 0 0 0 0 5
ABCC9 0 1 1 2 0 0 0 4
JUP 0 1 3 0 0 0 0 4
PRDM16 0 0 4 0 0 0 0 4
SLC4A3 1 0 3 0 0 0 0 4
VCL 0 0 4 0 0 0 0 4
AKAP9 0 0 2 1 1 0 0 3
CALM1, LOC130056272 0 0 0 3 0 0 0 3
DMD 0 0 2 1 0 0 0 3
FLNC 0 1 2 0 0 0 0 3
HRC, TRPM4 2 0 2 3 0 0 0 3
KCNJ2, LOC130061539 0 0 2 0 1 0 0 3
LMNA 0 1 2 0 0 0 0 3
LOC129999670, PRKAG2 0 0 2 1 0 0 0 3
MYH7 0 2 1 0 0 0 0 3
PKP2 0 0 2 0 1 0 0 3
SNTA1 0 0 3 0 0 0 0 3
ABCC9, KCNJ8 0 0 2 0 0 0 0 2
ACTC1, GJD2-DT 0 1 1 0 0 0 0 2
ANK2, LOC126807137 0 0 1 1 0 0 0 2
COL5A1 0 0 2 0 0 0 0 2
DPP6 0 0 2 0 0 0 0 2
DSG2 0 0 2 0 0 0 0 2
FNIP1 0 0 2 0 0 0 0 2
KCNA5 1 0 0 0 1 0 0 2
KCNE3, LIPT2 0 1 2 1 1 0 0 2
LOC126806066, RYR2 0 0 2 0 0 0 0 2
LOC126861897, MHRT, MYH7 0 0 2 0 0 0 0 2
MHRT, MYH7 0 1 1 0 0 0 0 2
RBM20 0 0 2 0 0 0 0 2
TCAP 0 0 1 1 0 0 0 2
TNNT2 0 2 0 0 0 0 0 2
TTC39A 0 0 2 0 0 0 0 2
ACAA1, ACVR2B, CTDSPL, DLEC1, EXOG, ITGA9, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111465007, LOC112935929, LOC112935930, LOC120285841, LOC121725139, LOC122889068, LOC122889069, LOC126806651, LOC126806652, LOC129389057, LOC129389058, LOC129936473, LOC129936474, LOC129936475, LOC129936476, LOC129936477, LOC129936478, LOC129936479, LOC129936480, LOC129936481, LOC129936482, LOC129936483, LOC129936484, LOC129936485, LOC129936486, LOC129936487, LOC129936488, LOC129936489, LOC129936490, MIR26A1, MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB 1 0 0 0 0 0 0 1
ACAA1, ACVR2B, CTDSPL, DLEC1, EXOG, ITGA9, MIR26A1, MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB 0 0 1 0 0 0 0 1
ACTN2 0 0 1 0 0 0 0 1
ACVR2B, EXOG, LOC110121269, LOC110121286, LOC110121287, LOC129936487, LOC129936488, SCN5A 0 0 1 0 0 0 0 1
ACVR2B, EXOG, SCN10A, SCN11A, SCN5A 0 0 1 0 0 0 0 1
ADPGK, ARID3B, BBS4, CCDC33, CD276, CLK3, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, GOLGA6A, HCN4, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MPI, NEO1, NPTN, PML, REC114, SCAMP2, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, ULK3 0 0 1 0 0 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202 0 0 1 0 0 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, NEO1 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
ANKRD1 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
CACNA1C, LINC02371, LOC130007181 0 0 1 0 0 0 0 1
CACNA1C, LOC130007181 0 0 0 0 1 0 0 1
CACNA1E 0 0 1 0 0 0 0 1
CALM1, LOC112272566 0 0 0 0 1 0 0 1
CORO1A 0 1 0 0 0 0 0 1
DMPK 0 0 1 0 0 0 0 1
FBN1 1 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 1 0 0 0 0 0 1
GJA5 0 0 1 0 0 0 0 1
GNB2 1 0 0 0 0 0 0 1
KCNE1 0 0 1 0 0 0 0 1
KCNJ16 0 0 1 0 0 0 0 1
KLHL8 0 0 1 0 0 0 0 1
LAMC1 0 0 1 0 0 0 0 1
LOC101927055, TTN 0 0 1 0 0 0 0 1
LOC110121269, LOC110121288, LOC129936489, SCN10A, SCN5A 1 0 0 0 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 1 0 0 0 0 1
LOC126806431, TTN 0 0 0 0 1 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
MECP2 0 1 0 0 0 0 0 1
MYBPHL 0 0 1 0 0 0 0 1
MYH11, NDE1 0 0 1 0 0 0 0 1
NEBL 0 0 1 0 0 0 0 1
NODAL 1 0 0 0 0 0 0 1
PITX2 0 0 1 0 0 0 0 1
SCN4B 0 0 1 0 0 0 0 1
SCNN1A 0 0 1 0 0 0 0 1
SLC26A4 0 1 0 0 0 0 0 1
SOS1 0 0 1 0 0 0 0 1
SYNE1 0 1 0 0 0 0 0 1
TBX20 1 0 0 0 0 0 0 1
TBX5 0 0 1 0 0 0 0 1
TET2 1 0 0 0 0 0 0 1
TGFB3 0 0 1 0 0 0 0 1
TGFBR2 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
WWP1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 125
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 222 127 6603 5661 624 0 0 13237
All of Us Research Program, National Institutes of Health 14 13 1415 734 86 0 0 2262
Fulgent Genetics, Fulgent Genetics 40 30 1157 162 27 0 0 1416
Illumina Laboratory Services, Illumina 0 1 883 254 318 0 0 1291
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 232 232
Genome-Nilou Lab 1 16 87 35 63 0 0 202
OMIM 95 0 1 0 0 1 0 97
Mendelics 8 1 43 11 25 0 0 88
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 15 69 0 0 0 0 85
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 15 24 41 0 0 0 0 80
Roden Lab, Vanderbilt University Medical Center 0 13 35 31 0 0 0 79
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 2 59 2 0 0 0 69
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 6 12 41 2 1 0 0 62
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 18 18 21 0 0 57
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 10 27 2 0 0 0 55
Blueprint Genetics 2 19 30 2 0 0 0 53
New York Genome Center 1 3 45 0 0 0 0 49
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 6 24 10 5 0 0 46
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 31 3 0 0 0 0 42
Baylor Genetics 7 7 23 0 0 0 0 37
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 2 29 0 0 0 0 36
Institute of Human Genetics, University of Leipzig Medical Center 4 8 13 2 2 0 0 29
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 9 16 0 0 26
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 3 12 11 0 0 0 0 25
Revvity Omics, Revvity 1 8 14 0 0 0 0 23
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 4 5 9 2 3 0 0 23
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 1 0 7 8 5 0 0 21
Neuberg Centre For Genomic Medicine, NCGM 1 1 19 0 0 0 0 21
MGZ Medical Genetics Center 3 2 15 0 0 0 0 20
GeneReviews 0 0 0 0 0 0 20 20
CSER _CC_NCGL, University of Washington 0 1 14 3 0 0 0 18
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 10 3 5 0 0 17
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 14 0 0 0 0 17
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 5 7 2 0 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 4 8 0 0 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 0 11 0 0 13
Phosphorus, Inc. 0 0 7 1 2 0 0 10
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 8 0 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 9 9
KardioGenetik, Herz- und Diabeteszentrum NRW 3 1 5 0 0 0 0 9
Lildballe Lab, Aarhus University Hospital 0 5 4 0 0 0 0 9
Center for Medical Genetics Ghent, University of Ghent 1 7 0 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 8 8
Center for Human Genetics, University of Leuven 0 3 4 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 0 3 4 0 0 0 0 7
Cohesion Phenomics 0 0 0 7 0 0 0 7
MVZ Medizinische Genetik Mainz 0 0 7 0 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 6 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 0 6
Molecular Genetics, Royal Melbourne Hospital 1 1 4 0 0 0 0 6
Department of Legal Medicine, University of Toyama 4 2 0 0 0 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 3 1 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 4 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 3 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 1 1 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 3 0 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 4 0 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 1 2 2 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 1 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 4 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 2 0 0 0 0 4
Genetics and Genomics Program, Sidra Medicine 1 0 3 0 0 0 0 4
3billion 1 3 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 0 0 3
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 1 1 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 1 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 3 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 0 2
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
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
Centre of Medical Genetics, University of Antwerp 1 1 0 0 0 0 0 2
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 1 1 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Centre for Genomic and Experimental Medicine, University of Edinburgh 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
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
GOSgene, University College London Great Ormond Street Institute of Child Health 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 1
SYNLAB MVZ HG Mannheim GmbH, Zentrum für Humangenetik Mannheim 0 0 1 0 0 0 0 1
Clinical Research Group, BGI genomics 0 1 0 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 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
Cardiology unit, Meyer University Hospital 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
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 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, Suma Genomics 0 0 1 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 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
Research Institute, Imperial College London Diabetes Centre 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 0 1
Muscat Medical Center, Bion Medical Genetic Lab 1 0 0 0 0 0 0 1
Razi Pathobiology & Medical Genetics 0 0 0 0 1 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 1

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