ClinVar Miner

Variants in gene combination LOC110121269, 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
20 12 121 65 12 1 33 191

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Brugada syndrome 11 5 73 27 8 0 8 124
Arrhythmia 0 0 49 46 7 0 0 102
not provided 6 5 29 8 5 0 11 58
not specified 0 0 22 19 8 0 0 45
Brugada syndrome 1 1 0 14 4 3 0 0 21
Long QT syndrome 3 2 1 10 5 4 0 0 21
Cardiovascular phenotype 1 0 8 4 4 0 0 17
Dilated cardiomyopathy 1E 0 0 12 4 1 0 0 17
Paroxysmal familial ventricular fibrillation 1 0 0 12 3 2 0 0 17
Progressive familial heart block, type 1A 0 0 13 3 1 0 0 17
Sick sinus syndrome 1, autosomal recessive 0 0 9 2 6 0 0 17
Congenital long QT syndrome 0 0 0 0 0 0 11 11
Romano-Ward syndrome 0 0 6 3 0 0 0 9
Long QT syndrome 0 0 6 0 0 0 0 6
Dilated Cardiomyopathy, Dominant 0 0 5 0 0 0 0 5
Paroxysmal familial ventricular fibrillation 0 0 5 0 0 0 0 5
Progressive familial heart block 0 0 5 0 0 0 0 5
Sick sinus syndrome 0 0 5 0 0 0 0 5
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 0 0 3 0 0 0 0 3
Cardiac arrhythmia 0 1 0 1 1 0 0 3
SUDDEN INFANT DEATH SYNDROME 1 0 0 0 0 0 1 2
Atrial fibrillation, familial, 10 1 0 0 0 0 0 0 1
Brugada syndrome (shorter-than-normal QT interval) 0 1 0 0 0 0 0 1
Cardiac conduction defect, nonspecific 0 0 0 0 0 0 1 1
Cardiomyopathy 0 0 0 1 0 0 0 1
Familial dilated cardiomyopathy 0 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 0 0 1
Left ventricular noncompaction 0 0 0 0 0 1 0 1
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 1 0 1
Myopathy; Meningioma; Cataract (disease); Osteoporosis; Hypertensive disorder 0 0 1 0 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 0 1
SUDDEN INFANT DEATH SYNDROME; Brugada syndrome 0 0 1 0 0 0 0 1
Sudden cardiac arrest 0 0 1 0 0 0 0 1
Sudden cardiac death 0 0 1 0 0 0 1 1
Sudden cardiac death; Prolonged QT interval 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 11 2 68 32 8 0 0 121
Color 0 0 49 46 7 0 0 102
GeneDx 5 4 26 16 5 0 0 56
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 33 33
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 15 6 6 0 0 28
Illumina Clinical Services Laboratory,Illumina 0 0 18 8 6 0 0 22
Ambry Genetics 1 0 8 4 4 0 0 17
Integrated Genetics/Laboratory Corporation of America 0 2 2 3 3 0 0 10
Athena Diagnostics Inc 0 0 2 1 2 0 0 5
Mendelics 0 0 5 0 0 0 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 3 0 0 1 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 4 0 0 0 0 5
OMIM 4 0 0 0 0 1 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 1 0 2 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 0 1 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 0 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 1 2 0 0 0 0 3
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 0 2
PreventionGenetics,PreventionGenetics 0 0 0 0 2 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 0 2 0 0 2
Blueprint Genetics 0 1 1 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 0 1

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