ClinVar Miner

Variants in gene SCN5A

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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
166 156 622 331 112 1 457 1367

Condition and significance breakdown #

Total conditions: 72
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Brugada syndrome 52 43 354 161 47 0 209 784
not provided 80 89 203 11 28 0 54 425
not specified 0 1 110 160 96 0 0 327
Cardiovascular phenotype 17 19 82 70 22 0 0 210
Congenital long QT syndrome 0 0 0 0 0 0 160 160
Arrhythmia 0 1 53 65 36 0 0 155
Long QT syndrome 1 3 99 23 2 0 0 128
Sick sinus syndrome 0 1 79 18 0 0 1 99
Dilated Cardiomyopathy, Dominant 0 0 79 18 0 0 0 97
Paroxysmal familial ventricular fibrillation 0 0 79 18 0 0 0 97
Progressive familial heart block 0 0 79 18 0 0 0 97
Romano-Ward syndrome 0 0 79 18 0 0 0 97
Brugada syndrome 1 26 10 10 0 0 0 0 43
Long QT syndrome 3 22 6 15 0 1 0 0 41
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
Primary dilated cardiomyopathy 1 1 9 1 0 0 6 15
Atrial fibrillation 0 1 3 0 0 0 10 11
Cardiomyopathy 0 0 3 1 4 0 0 8
Primary familial hypertrophic cardiomyopathy 0 0 8 0 0 0 0 8
Atrial fibrillation, familial, 10 7 0 0 0 0 0 0 7
Cardiac conduction defect, nonspecific 1 0 1 0 0 0 5 7
Dilated cardiomyopathy 1E 7 0 0 0 0 0 0 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
See cases 0 0 0 3 3 0 0 6
SUDDEN INFANT DEATH SYNDROME 0 0 2 0 0 0 3 5
Arrhythmogenic right ventricular cardiomyopathy 0 0 4 0 0 0 0 4
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
Progressive familial heart block type 1A 4 0 0 0 0 0 0 4
SCN5A-Related Disorders 1 0 3 0 0 0 0 4
Sick sinus syndrome 1, autosomal recessive 4 0 0 0 0 0 0 4
Brugada syndrome (shorter-than-normal QT interval) 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
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
Familial dilated cardiomyopathy 0 0 2 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
Paroxysmal familial ventricular fibrillation 1 1 0 0 1 0 0 0 2
Sudden cardiac death 0 0 0 1 1 0 0 2
Ventricular fibrillation 0 0 0 0 0 0 2 2
Ventricular tachycardia 0 0 1 0 0 0 1 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
Death in early adulthood 1 0 0 0 0 0 0 1
Dilated cardiomyopathy 0 0 1 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; 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
SCN5A-related disorder 0 0 0 0 0 0 1 1
Sinus node disease 1 0 0 0 0 0 0 1
Sudden unexplained death 0 0 0 1 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: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 47 26 275 141 47 0 0 536
GeneDx 80 78 178 106 63 0 2 507
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 455 455
Ambry Genetics 16 19 84 70 22 0 0 211
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 11 73 54 29 0 0 172
Color 0 0 52 65 36 0 0 153
Illumina Clinical Services Laboratory,Illumina 0 1 86 20 0 0 0 107
Integrated Genetics/Laboratory Corporation of America 3 6 29 12 16 0 0 66
Blueprint Genetics, 4 7 31 6 0 0 0 48
OMIM 43 0 0 0 0 1 0 43
Stanford Center for Inherited Cardiovascular Disease,Stanford University 2 4 27 1 2 0 0 36
CSER_CC_NCGL; University of Washington Medical Center 0 2 24 8 0 0 0 34
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 13 5 16 0 0 0 0 34
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 15 2 15 0 0 33
Biesecker Lab/Human Development Section,National Institutes of Health 0 1 16 8 6 0 0 31
Athena Diagnostics Inc 0 0 4 4 21 0 0 29
PreventionGenetics 0 0 0 4 17 0 0 21
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 3 5 9 1 0 0 0 18
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 3 1 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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 2 1 1 1 0 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 1 1 0 1 0 0 4
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
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
HudsonAlpha Institute for Biotechnology 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Gharavi Laboratory,Columbia University 1 1 0 0 0 0 0 2
Center for Human Genetics, Inc 1 0 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 0 1

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