ClinVar Miner

Variants in gene combination LOC110121269, 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
16 10 76 37 8 1 33 130

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Brugada syndrome 7 3 52 21 7 0 8 90
not provided 5 5 25 1 4 0 11 47
not specified 0 0 17 17 8 0 0 39
Cardiovascular phenotype 1 0 8 4 4 0 0 17
Arrhythmia 0 0 0 6 6 0 0 12
Congenital long QT syndrome 0 0 0 0 0 0 11 11
Long QT syndrome 0 0 7 3 0 0 0 10
Dilated Cardiomyopathy, Dominant 0 0 6 3 0 0 0 9
Paroxysmal familial ventricular fibrillation 0 0 6 3 0 0 0 9
Progressive familial heart block 0 0 6 3 0 0 0 9
Romano-Ward syndrome 0 0 6 3 0 0 0 9
Sick sinus syndrome 0 0 6 3 0 0 0 9
Long QT syndrome 3 2 1 2 0 1 0 0 6
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 0 0 1 1 0 0 2
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
Brugada syndrome 1 1 0 0 0 0 0 0 1
Cardiac conduction defect, nonspecific 0 0 0 0 0 0 1 1
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 1 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 death 0 0 1 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 7 1 46 18 7 0 0 79
GeneDx 5 4 26 14 4 0 0 53
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 0 12 5 6 0 0 23
Ambry Genetics 1 0 8 4 4 0 0 17
Color 0 0 0 6 6 0 0 12
Illumina Clinical Services Laboratory,Illumina 0 0 6 3 0 0 0 9
Integrated Genetics/Laboratory Corporation of America 0 1 0 2 2 0 0 5
OMIM 4 0 0 0 0 1 0 4
Athena Diagnostics Inc 0 0 1 0 2 0 0 3
Biesecker Lab/Human Development 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 0 0 3 0 0 0 0 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 1 2 0 0 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 2 0 0 0 0 3
PreventionGenetics 0 0 0 0 2 0 0 2
Blueprint Genetics, 0 1 1 0 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 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

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