ClinVar Miner

Variants studied for Brugada syndrome 1

Included ClinVar conditions (29):
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 not provided total
97 146 2069 1360 228 230 3960

Gene and significance breakdown #

Total genes and gene combinations: 56
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN10A 0 2 664 489 48 0 1196
SCN5A 90 130 465 96 40 215 885
CACNA2D1 0 1 235 305 52 0 592
SLMAP 0 0 203 176 30 0 409
GPD1L 0 0 119 133 14 0 266
LOC110121288, SCN10A 0 0 82 62 15 0 159
KCNJ8 0 0 72 47 10 0 129
LOC110121269, SCN5A 4 9 57 6 6 8 81
KCNE5 0 0 48 22 4 0 74
CACNB2 0 0 28 3 0 1 32
CACNA1C 0 0 12 4 2 6 24
GPD1L, LOC129936414 0 0 10 3 0 0 13
ANK2 0 0 11 1 0 0 11
KCNE3 0 0 8 4 0 0 11
SCN3B 0 0 10 0 0 0 10
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
HCN4 0 0 2 0 0 0 2
HRC, TRPM4 0 0 2 0 0 0 2
PKP2 0 0 1 0 1 0 2
SCN1B 0 0 2 0 0 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
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, 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
KCND3 0 0 1 0 0 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
LAMA4 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: 86
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 10 3 1507 1245 173 0 2938
Illumina Laboratory Services, Illumina 0 1 196 46 25 0 268
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 222 222
Fulgent Genetics, Fulgent Genetics 12 13 173 10 5 0 213
Roden Lab, Vanderbilt University Medical Center 0 13 35 31 0 0 79
Mendelics 2 0 38 10 16 0 66
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 24 10 5 0 47
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 12 9 13 0 0 0 34
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 21 3 0 0 0 30
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 6 16 0 0 0 28
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 4 11 8 0 0 0 22
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 17 0 1 0 18
OMIM 16 0 0 0 0 0 16
CSER _CC_NCGL, University of Washington 0 1 13 2 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 3 5 6 0 2 0 16
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 5 7 0 0 0 15
Juno Genomics, Hangzhou Juno Genomics, Inc 1 11 3 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 15 0 0 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 12 0 0 0 14
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 3 2 4 2 2 0 13
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 4 5 2 0 11
New York Genome Center 1 1 7 0 0 0 9
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 2 2 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 0 8
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
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Phosphorus, Inc. 0 0 3 1 1 0 5
Clinical Genomics Laboratory, Stanford Medicine 1 0 4 0 0 0 5
KardioGenetik, Herz- und Diabeteszentrum NRW 2 1 2 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 2 1 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Center for Medical Genetics Ghent, University of Ghent 0 4 0 0 0 0 4
3billion 1 0 2 0 1 0 4
Center for Human Genetics, University of Leuven 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
Molecular Genetics, Royal Melbourne Hospital 0 1 2 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 0 3 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 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
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 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
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 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
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
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 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
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
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Cardiology unit, Meyer University Hospital 0 0 1 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
Medical Genetics Clinic, University of Catania 0 0 1 0 0 0 1
Muscat Medical Center, Bion Medical Genetic Lab 1 0 0 0 0 0 1

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