ClinVar Miner

Variants studied for Brugada syndrome

Included ClinVar conditions (45):
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
146 171 3847 2515 368 233 7044

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HCN4 3 8 880 583 43 0 1513
SCN10A 0 1 663 489 48 0 1195
SCN5A 88 130 463 96 39 213 879
CACNB2 2 1 332 284 37 2 639
CACNA2D1 0 1 235 305 52 0 592
SCN1B 28 6 309 146 43 1 520
SLMAP 0 0 203 176 30 0 409
GPD1L 4 0 123 140 14 2 270
LOC110121288, SCN10A 0 0 82 62 15 0 159
CACNA1C 3 5 109 24 5 6 147
KCNJ8 0 0 72 47 10 0 129
SCN3B 4 1 77 39 10 1 127
HCN4, LOC105370890, LOC126862173 2 0 59 52 0 0 113
LOC110121269, SCN5A 4 10 57 6 6 8 82
KCNE3 1 0 54 17 4 0 74
KCNE5 0 0 48 22 4 0 74
KCND3 3 3 17 5 0 0 24
GPD1L, LOC129936414 0 0 10 3 0 0 13
HCN4, LOC105370890 1 0 5 8 0 0 13
TTN 0 0 6 3 1 0 10
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 2 0 1 0 3
MYBPC3 0 1 2 0 0 0 3
ABCC9, KCNJ8 0 0 2 0 0 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
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
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: 99
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 42 15 3143 2353 284 0 5837
Fulgent Genetics, Fulgent Genetics 14 14 431 62 13 0 534
Illumina Laboratory Services, Illumina 0 1 211 47 51 0 310
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 222 222
Roden Lab, Vanderbilt University Medical Center 0 13 35 31 0 0 79
Mendelics 2 0 39 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 1 6 24 10 5 0 46
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 12 9 20 0 0 0 41
OMIM 34 0 1 0 0 0 35
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 6 19 0 0 0 31
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 9 8 0 23
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 4 11 9 0 0 0 23
Blueprint Genetics 1 5 13 1 0 0 20
Juno Genomics, Hangzhou Juno Genomics, Inc 1 13 6 0 0 0 20
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 1 0 6 7 5 0 19
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 6 8 0 1 0 18
Institute of Human Genetics, University of Leipzig Medical Center 2 5 8 0 2 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 14 0 0 0 16
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
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
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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 4 2 0 0 0 7
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
KardioGenetik, Herz- und Diabeteszentrum NRW 2 1 3 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 4 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 1 0 0 0 3
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
Institute of Human Genetics, Heidelberg University 1 2 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 1 0 2 0 0 0 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
Molecular Genetics, Royal Melbourne Hospital 0 1 1 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
Lildballe Lab, Aarhus University Hospital 0 0 2 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
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
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
Genetics and Genomics Program, Sidra Medicine 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, Medical Genetics 0 1 0 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
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
Muscat Medical Center, Bion Medical Genetic Lab 1 0 0 0 0 0 1

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