ClinVar Miner

Variants in gene SCN5A

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Minimum submission review status: Collection method:
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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
227 200 1144 647 188 1 458 2168

Condition and significance breakdown #

Total conditions: 82
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Brugada syndrome 112 58 682 301 60 0 209 1322
Arrhythmia 6 9 427 344 45 0 0 830
not provided 81 94 226 126 67 0 54 594
not specified 1 2 124 179 104 0 0 365
Brugada syndrome 1 36 18 164 37 28 0 0 268
Cardiovascular phenotype 19 17 79 72 23 0 0 210
Long QT syndrome 3 23 9 119 33 27 0 0 206
Sick sinus syndrome 1, autosomal recessive 7 1 113 14 42 0 0 177
Dilated cardiomyopathy 1E 7 2 121 28 15 0 0 173
Progressive familial heart block, type 1A 4 0 126 27 11 0 0 167
Paroxysmal familial ventricular fibrillation 1 1 0 123 28 13 0 0 165
Congenital long QT syndrome 0 0 0 0 1 0 160 161
Romano-Ward syndrome 0 1 79 16 0 0 0 96
Long QT syndrome 2 5 51 6 2 0 0 65
Sick sinus syndrome 0 1 30 2 0 0 1 34
Dilated Cardiomyopathy, Dominant 0 0 30 2 0 0 0 32
Paroxysmal familial ventricular fibrillation 0 0 30 2 0 0 0 32
Progressive familial heart block 0 0 30 2 0 0 0 32
none provided 0 0 10 5 14 0 0 29
Primary dilated cardiomyopathy 1 1 15 2 0 0 6 22
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1, autosomal recessive; Progressive familial heart block, type 1A; Paroxysmal familial ventricular fibrillation 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 3 0 12 0 0 0 0 15
Atrial fibrillation 0 1 3 0 0 0 10 11
Brugada syndrome 1; Long QT syndrome 3 0 5 3 2 1 0 0 11
Atrial fibrillation, familial, 10 8 0 2 0 0 0 0 10
Cardiomyopathy 0 0 4 2 4 0 0 10
Primary familial hypertrophic cardiomyopathy 0 0 9 0 0 0 0 9
Cardiac conduction defect, nonspecific 1 0 1 0 0 0 5 7
Familial isolated arrhythmogenic right ventricular dysplasia 6 0 0 0 0 0 0 6
Long QT syndrome 3; Brugada syndrome 0 0 4 0 2 0 0 6
SCN5A-Related Disorders 1 0 5 0 0 0 0 6
See cases 0 0 0 3 3 0 0 6
Arrhythmogenic right ventricular cardiomyopathy 0 0 4 1 0 0 0 5
Brugada syndrome (shorter-than-normal QT interval) 2 3 0 0 0 0 0 5
Inborn genetic diseases 0 2 3 0 0 0 0 5
Long QT syndrome 1 2 3 0 0 0 0 0 5
Primary familial dilated cardiomyopathy 2 0 3 0 0 0 0 5
SUDDEN INFANT DEATH SYNDROME 0 0 2 0 0 0 3 5
Cardiac arrhythmia 0 3 1 0 0 0 0 4
Ventricular tachycardia 0 1 1 1 0 0 1 4
Brugada syndrome; Congenital long QT syndrome 1 2 0 0 0 0 0 3
Cardiac arrest 0 0 2 1 0 0 0 3
Cardiomyopathy, left ventricular noncompaction 0 1 1 1 0 0 0 3
Death in infancy 3 0 0 0 0 0 0 3
Hypertrophic cardiomyopathy 0 0 3 0 0 0 0 3
Acquired long QT syndrome 0 0 0 0 0 0 2 2
Atrial standstill 1, digenic 2 0 0 0 0 0 0 2
Atrioventricular block 0 0 0 0 0 0 2 2
Brugada syndrome, lidocaine-induced 0 0 1 1 0 0 0 2
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 2 0 0 0 0 2
Conduction disorder of the heart 0 1 1 0 0 0 0 2
Long QT syndrome, drug-associated 0 0 1 2 0 0 0 2
SCN5A-related disorder 0 0 0 0 0 0 2 2
Sudden cardiac arrest 0 0 2 0 0 0 0 2
Sudden cardiac death 0 0 0 1 1 0 0 2
Sudden unexplained death 0 0 1 1 0 0 0 2
Ventricular fibrillation 0 0 0 0 0 0 2 2
Wolff-Parkinson-White pattern 0 2 0 0 0 0 0 2
AV junctional rhythm 0 0 1 0 0 0 0 1
Atrial fibrillation; Brugada syndrome 0 0 0 1 0 0 0 1
Brugada syndrome 1; Long QT syndrome 3; Progressive familial heart block, type 1A; Paroxysmal familial ventricular fibrillation 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10 0 1 0 0 0 0 0 1
Cardiac conduction defect, nonprogressive 1 0 0 0 0 0 0 1
Cardiomyopathy; Long QT syndrome 0 0 0 0 1 0 0 1
Death in early adulthood 1 0 0 0 0 0 0 1
Dilated cardiomyopathy 1A 0 0 1 0 0 0 0 1
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 1 0 0 0 0 0 1
Heart block, nonprogressive 1 0 0 0 0 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 0 0 1
Long QT syndrome 2 0 0 1 0 0 0 0 1
Long QT syndrome 2/3, digenic 1 0 0 0 0 0 0 1
Long QT syndrome; Brugada syndrome 0 0 0 0 1 0 0 1
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 1 0 1
Long qt syndrome 3/6, digenic 1 0 0 0 0 0 0 1
Primary dilated cardiomyopathy; Brugada syndrome 1 0 0 0 0 0 0 1
Primary dilated cardiomyopathy; Cardiac arrhythmia; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome; Brugada syndrome; Sick sinus syndrome 0 0 0 0 0 0 1 1
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 1 0 0 0 0 1
Pulmonary valve stenosis (rare); Ventricular tachycardia 0 0 0 1 0 0 0 1
SCN5A-Related Arrhythmias 0 0 1 0 0 0 0 1
Sinus node disease 1 0 0 0 0 0 0 1
Sinus node disease; Brugada syndrome; Sudden cardiac arrest 1 0 0 0 0 0 0 1
Syncope 0 1 0 0 0 0 0 1
Syncope; Ventricular tachycardia 0 0 1 0 0 0 0 1
Torsades de pointes 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 107 37 646 332 60 0 0 1182
Color Health, Inc 6 7 427 344 45 0 0 829
GeneDx 81 79 178 137 99 0 2 576
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 455 455
Ambry Genetics 18 17 82 72 23 0 0 212
Illumina Clinical Services Laboratory,Illumina 0 1 175 63 45 0 0 206
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 6 13 75 60 30 0 0 184
Integrated Genetics/Laboratory Corporation of America 5 12 39 33 29 0 0 118
Mendelics 1 0 37 6 8 0 0 52
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 32 15 0 0 0 51
Blueprint Genetics 4 7 31 6 0 0 0 48
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 18 10 20 0 0 0 0 48
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 6 11 18 5 6 0 0 46
OMIM 43 0 0 0 0 1 0 43
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 14 8 17 0 0 41
Athena Diagnostics Inc 0 0 8 8 24 0 0 40
Stanford Center for Inherited Cardiovascular Disease, Stanford University 2 4 27 1 2 0 0 36
CSER _CC_NCGL, University of Washington 0 2 24 8 0 0 0 34
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 15 2 15 0 0 33
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 16 8 6 0 0 32
PreventionGenetics, PreventionGenetics 0 0 0 4 17 0 0 21
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 11 4 2 0 0 18
Fulgent Genetics,Fulgent Genetics 3 0 12 0 0 0 0 15
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 3 2 7 1 0 0 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 6 2 0 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 1 1 7 0 2 0 0 11
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 5 2 3 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 5 0 0 0 0 9
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 1 1 2 4 1 0 0 9
Baylor Genetics 1 0 5 0 0 0 0 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 3 2 0 0 0 0 6
ISCA site 6 0 0 0 3 3 0 0 6
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 0 0 0 0 0 0 6
Center for Medical Genetics Ghent,University of Ghent 0 5 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 1 0 1 0 0 5
GeneReviews 4 0 0 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 2 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 2 1 0 0 4
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 1 0 0 1 0 0 4
Genetics and Genomics Program,Sidra Medicine 0 0 4 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 0 0 0 0 0 3
Center for Human Genetics,University of Leuven 0 0 3 0 0 0 0 3
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 3 0 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 0 3
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 0 2
Gharavi Laboratory,Columbia University 1 1 0 0 0 0 0 2
Klaassen Lab,Charite University Medicine Berlin 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 0 1
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Institute for Genetics of Heart Diseases, University Hospital Muenster 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
ITMI 0 0 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 0 1
Cirak Lab,University Hospital Cologne 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 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
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 0 1
Robert's Program,Boston Children's Hospital 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1

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