ClinVar Miner

Variants studied for Brugada syndrome

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
122 115 3466 2238 366 233 6347

Gene and significance breakdown #

Total genes and gene combinations: 60
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HCN4 3 8 739 516 43 0 1305
SCN10A 0 1 598 427 48 0 1068
SCN5A 74 83 447 131 38 213 880
CACNB2 2 0 301 246 37 2 570
CACNA2D1 0 1 205 261 52 0 518
SCN1B 18 7 281 129 42 1 464
SLMAP 0 0 178 149 30 0 357
GPD1L 4 0 117 113 14 2 237
LOC110121288, SCN10A 0 0 79 54 15 0 148
CACNA1C 3 2 104 24 5 6 139
SCN3B 4 1 66 37 10 1 114
KCNJ8 0 0 66 37 10 0 113
HCN4, LOC105370890, LOC126862173 2 0 52 44 0 0 98
LOC110121269, SCN5A 4 5 58 10 6 8 81
KCNE3 1 0 53 13 4 0 69
KCNE5 0 0 41 22 4 0 67
KCND3 3 3 16 5 0 0 23
TTN 0 0 12 3 1 0 16
GPD1L, LOC129936414 0 0 9 3 0 0 12
HCN4, LOC105370890 1 0 5 6 0 0 11
KCNH2 0 3 1 1 0 0 5
TRPM4 0 0 5 0 0 0 5
ANK2 0 0 3 1 0 0 3
DSP 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
MYBPC3 0 0 2 0 0 0 2
MYH6 0 0 1 1 0 0 2
PKP2 0 0 1 0 1 0 2
ABCC9 0 0 0 1 0 0 1
ABCC9, KCNJ8 0 0 1 0 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, 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
AKAP9 0 0 0 0 1 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, 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
CACNA1C, LOC130007181 0 0 0 0 1 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
KCNA5 0 0 0 0 1 0 1
KCNE1 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
LOC126806431, TTN 0 0 0 0 1 0 1
MYBPHL 0 0 1 0 0 0 1
RYR2 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: 86
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 39 20 2850 2107 284 0 5300
Fulgent Genetics, Fulgent Genetics 14 7 412 62 13 0 508
Illumina Laboratory Services, Illumina 0 1 212 47 51 0 311
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 222 222
Mendelics 2 0 40 10 21 0 73
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 12 9 20 0 0 0 41
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 4 22 9 4 0 40
OMIM 34 0 1 0 0 0 35
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 25 1 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 9 8 0 23
New York Genome Center 1 0 20 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 13 0 0 0 0 18
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 6 8 0 1 0 18
CSER _CC_NCGL, University of Washington 0 1 13 2 0 0 16
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 3 2 7 2 2 0 16
Institute of Human Genetics, University of Leipzig Medical Center 2 3 9 0 2 0 16
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 5 6 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
GeneReviews 0 0 0 0 0 10 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 2 2 0 8
Phosphorus, Inc. 0 0 5 1 2 0 8
Revvity Omics, Revvity 0 0 7 0 0 0 7
MGZ Medical Genetics Center 1 2 4 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 5 0 0 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 4 2 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 6 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 0 2 4 0 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 2 1 0 0 0 4
Center for Medical Genetics Ghent, University of Ghent 0 4 0 0 0 0 4
Roden Lab, Vanderbilt University Medical Center 0 3 0 1 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 4 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 4 0 0 0 4
Center for Human Genetics, University of Leuven 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Centre of Medical Genetics, University of Antwerp 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
GOSgene, University College London Great Ormond Street Institute of Child Health 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
SYNLAB MVZ HG Mannheim GmbH, Zentrum für Humangenetik Mannheim 0 0 1 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Cardiology unit, Meyer University Hospital 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
DASA 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 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Research Institute, Imperial College London Diabetes Centre 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 1 0 0 0 0 0 1
Muscat Medical Center, Bion Medical Genetic Lab 1 0 0 0 0 0 1

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