ClinVar Miner

Variants in gene SCN5A

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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 risk factor not provided total
190 174 804 449 180 1 458 1651

Condition and significance breakdown #

Total conditions: 77
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Brugada syndrome 80 49 460 180 59 0 209 960
not provided 81 92 219 120 67 0 54 583
not specified 1 2 106 168 97 0 0 335
Brugada syndrome 1 31 11 151 36 27 0 0 245
Cardiovascular phenotype 17 19 79 72 23 0 0 210
Long QT syndrome 3 22 8 115 33 26 0 0 200
Dilated cardiomyopathy 1E 7 1 119 28 15 0 0 170
Sick sinus syndrome 1, autosomal recessive 5 0 109 14 41 0 0 169
Progressive familial heart block, type 1A 4 0 126 27 10 0 0 166
Paroxysmal familial ventricular fibrillation 1 1 0 121 28 12 0 0 162
Congenital long QT syndrome 0 0 0 0 0 0 160 160
Arrhythmia 0 2 53 65 36 0 0 156
Romano-Ward syndrome 0 0 79 18 0 0 0 97
Long QT syndrome 1 4 51 6 2 0 0 63
Sick sinus syndrome 0 1 30 2 0 0 1 34
Dilated Cardiomyopathy, Dominant 0 0 31 2 0 0 0 33
Paroxysmal familial ventricular fibrillation 0 0 30 2 0 0 0 32
Progressive familial heart block 0 0 30 2 0 0 0 32
Primary dilated cardiomyopathy 1 1 11 1 0 0 6 17
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
Cardiomyopathy 0 0 4 2 4 0 0 10
Primary familial hypertrophic cardiomyopathy 0 0 9 0 0 0 0 9
Atrial fibrillation, familial, 10 7 0 0 0 0 0 0 7
Cardiac conduction defect, nonspecific 1 0 1 0 0 0 5 7
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 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
Familial dilated cardiomyopathy 2 0 3 0 0 0 0 5
SUDDEN INFANT DEATH SYNDROME 0 0 2 0 0 0 3 5
Brugada syndrome 1; Long QT syndrome 3 0 0 1 2 1 0 0 4
Inborn genetic diseases 0 2 2 0 0 0 0 4
Long QT syndrome 1 1 3 0 0 0 0 0 4
Ventricular tachycardia 0 1 1 1 0 0 1 4
Brugada syndrome (shorter-than-normal QT interval) 1 2 0 0 0 0 0 3
Brugada syndrome; Congenital long QT syndrome 1 2 0 0 0 0 0 3
Cardiac arrest 0 0 2 1 0 0 0 3
Death in infancy 3 0 0 0 0 0 0 3
Dilated cardiomyopathy 0 0 2 1 0 0 0 3
Left ventricular noncompaction cardiomyopathy 0 1 1 1 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
Cardiac arrhythmia 0 0 2 0 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
Hypertrophic cardiomyopathy 0 0 2 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 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
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
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
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
Nodal rhythm 0 0 1 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
Syncope 0 1 0 0 0 0 0 1
Torsades de pointes 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 75 31 428 246 60 0 0 840
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 16 19 81 72 23 0 0 211
Illumina Clinical Services Laboratory,Illumina 0 1 175 62 45 0 0 206
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 6 12 75 57 29 0 0 179
Color 0 0 52 65 36 0 0 153
Integrated Genetics/Laboratory Corporation of America 3 6 21 19 17 0 0 66
Mendelics 1 0 37 6 8 0 0 52
Blueprint Genetics 4 7 31 6 0 0 0 48
OMIM 43 0 0 0 0 1 0 43
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 30 9 0 0 0 43
Athena Diagnostics Inc 0 0 6 7 24 0 0 37
Stanford Center for Inherited Cardiovascular Disease, Stanford University 2 4 27 1 2 0 0 36
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 13 6 17 0 0 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 5 8 11 4 3 0 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 6 5 11 0 0 24
PreventionGenetics,PreventionGenetics 0 0 0 4 17 0 0 21
Fulgent Genetics,Fulgent Genetics 3 0 12 0 0 0 0 15
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 2 3 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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 2 1 3 1 0 0 0 7
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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 3 2 0 0 0 0 0 5
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 1 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 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
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 2 0 0 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
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 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
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
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
GOSgene,University College London Great Ormond Street Institute of Child Health 0 1 0 0 0 0 0 1
Robert's Program,Boston Children's Hospital 0 0 1 0 0 0 0 1

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