ClinVar Miner

Variants studied for Brugada syndrome

Included ClinVar conditions (51):
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
158 192 4226 2768 369 417 7825

Gene and significance breakdown #

Total genes and gene combinations: 65
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HCN4 3 8 983 641 43 0 1673
SCN10A 0 2 795 559 48 0 1397
SCN5A 97 142 429 94 40 388 979
CACNB2 2 2 353 298 37 2 676
CACNA2D1 0 1 266 357 52 0 675
SCN1B 31 8 338 153 43 1 559
SLMAP 0 0 233 201 31 0 465
GPD1L 4 0 141 146 14 2 294
LOC110121288, SCN10A 0 0 100 69 15 0 184
KCNJ8 0 0 86 54 10 0 150
CACNA1C 3 5 106 21 4 6 141
SCN3B 4 1 76 46 10 1 133
HCN4, LOC105370890, LOC126862173 2 2 63 59 0 0 126
KCNE5 0 0 60 22 5 0 87
LOC110121269, SCN5A 4 10 52 6 6 17 80
KCNE3 1 0 51 14 4 0 68
KCND3 3 4 18 5 0 0 26
HCN4, LOC105370890 1 0 7 8 0 0 15
GPD1L, LOC129936414 0 0 9 4 0 0 13
ANK2 0 1 11 1 0 0 12
TTN 0 0 6 3 1 0 10
KCNH2 0 3 1 1 0 0 5
TRPM4 0 0 5 0 0 0 5
DSP 0 0 2 0 1 0 3
MYBPC3 0 1 2 0 0 0 3
ABCC9, KCNJ8 0 0 2 0 0 0 2
AKAP9 0 0 1 0 1 0 2
HRC, TRPM4 0 0 2 0 0 0 2
KCNE3, LIPT2 0 1 2 1 1 0 2
LAMA4 0 0 2 0 0 0 2
PKP2 0 0 1 0 1 0 2
ABCC9 0 0 0 1 0 0 1
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 1
ACAA1, ACVR2B, CTDSPL, DLEC1, EXOG, ITGA9, MIR26A1, MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB 0 0 1 0 0 0 1
ACVR2B, EXOG, LOC110121269, LOC110121286, LOC110121287, LOC129936487, LOC129936488, SCN5A 0 0 1 0 0 0 1
ACVR2B, EXOG, SCN10A, SCN11A, SCN5A 0 0 1 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 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202 0 0 1 0 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, NEO1 0 0 1 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 1
ANK2, LOC126807136 0 0 1 0 0 0 1
ANK2, LOC126807137 0 0 0 1 0 0 1
ANKRD1 0 0 1 0 0 0 1
CACNA1C, LINC02371, LOC130007181 0 0 1 0 0 0 1
COL5A1 0 0 1 0 0 0 1
DMD 0 0 0 1 0 0 1
FBN1 1 0 0 0 0 0 1
GATA4 0 1 0 0 0 0 1
HCN1 0 0 1 0 0 0 1
KCNA5 0 0 0 0 1 0 1
KCNJ16 0 0 1 0 0 0 1
KCNJ2 0 0 1 0 0 0 1
KCNQ1 0 0 1 0 0 0 1
LOC110121269, LOC110121288, LOC129936489, SCN10A, SCN5A 1 0 0 0 0 0 1
LOC126806422, TTN 0 0 1 0 0 0 1
LOC126806431, TTN 0 0 0 0 1 0 1
MYBPHL 0 0 1 0 0 0 1
MYH6 0 0 0 1 0 0 1
RYR2 0 0 1 0 0 0 1
SCNN1A 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1
SOS1 0 0 1 0 0 0 1
TCAP 0 0 0 1 0 0 1
TGFB3 0 0 1 0 0 0 1
TTR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 112
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 45 18 3552 2616 286 0 6517
Fulgent Genetics, Fulgent Genetics 14 14 430 62 13 0 533
Vandenberg Lab, The Victor Chang Cardiac Research Institute 0 0 0 0 0 275 275
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 222 222
Illumina Laboratory Services, Illumina 0 1 132 37 49 0 219
Roden Lab, Vanderbilt University Medical Center 0 13 35 31 0 0 79
Mendelics 3 0 38 10 21 0 72
All of Us Research Program, National Institutes of Health 24 24 4 0 0 0 52
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 6 27 10 5 0 50
MVZ Martinsried, Medicover Genetics 12 9 20 0 0 0 41
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 7 19 0 0 0 37
OMIM 34 0 1 0 0 0 35
Juno Genomics, Hangzhou Juno Genomics, Inc 4 17 9 0 0 0 30
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 21 3 0 0 0 30
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 25 1 0 0 29
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 4 12 10 0 0 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 9 8 0 23
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 22 0 1 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 19 0 0 0 21
Blueprint Genetics 1 5 13 1 0 0 20
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 1 0 6 7 5 0 19
Institute of Human Genetics, University of Leipzig Medical Center 3 6 8 0 2 0 19
CSER _CC_NCGL, University of Washington 0 1 13 2 0 0 16
New York Genome Center 1 1 14 0 0 0 16
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 3 2 4 2 2 0 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 2 4 7 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 6 0 12
Baylor Genetics 1 1 9 0 0 0 11
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 4 5 2 0 11
Neuberg Centre For Genomic Medicine, NCGM 0 0 11 0 0 0 11
GeneReviews 0 0 0 0 0 10 10
Institute of Immunology and Genetics Kaiserslautern 0 5 4 0 0 0 9
Clinical Genomics Laboratory, Stanford Medicine 1 0 7 0 0 0 8
Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences 0 6 2 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 1 3 4 0 0 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 2 2 0 8
KardioGenetik, Herz- und Diabeteszentrum NRW 2 2 4 0 0 0 8
Phosphorus, Inc. 0 0 5 1 2 0 8
Revvity Omics, Revvity 0 0 8 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 4 2 0 0 0 7
MGZ Medical Genetics Center 1 2 4 0 0 0 7
3billion 1 2 2 0 1 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 6 0 0 0 6
Institute of Human Genetics, Heidelberg University 3 3 0 0 0 0 6
Center for Medical Genetics Ghent, University of Ghent 0 4 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 2 1 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 2 1 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 4 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 3 0 0 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 1 1 0 0 0 3
Center for Human Genetics, University of Leuven 0 0 3 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 2 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 3 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 2 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Centre of Medical Genetics, University of Antwerp 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Lildballe Lab, Aarhus University Hospital 0 0 2 0 0 0 2
Medical Genetics Clinic, University of Catania 0 1 1 0 0 0 2
OLLIN Analises Genomicas, OLLIN 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
Cardiology unit, Meyer University Hospital 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
GOSgene, University College London Great Ormond Street Institute of Child Health 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Muscat Medical Center, Bion Medical Genetic Lab 1 0 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 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Research Institute, Imperial College London Diabetes Centre 0 1 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
SYNLAB MVZ HG Mannheim GmbH, Zentrum für Humangenetik Mannheim 0 0 1 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1

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