ClinVar Miner

Variants in gene SCN1B

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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 not provided total
16 5 152 96 55 2 274

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Brugada syndrome 5 3 1 95 25 38 0 156
not provided 6 3 56 27 9 1 96
not specified 0 0 15 48 31 0 86
Generalized epilepsy with febrile seizures plus, type 1 2 1 24 12 11 0 49
Seizures 1 0 4 5 4 0 14
Cardiovascular phenotype 0 1 2 4 4 0 11
Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Epileptic encephalopathy, early infantile, 52 1 1 4 0 0 0 6
Epileptic encephalopathy, early infantile, 52 4 0 1 0 0 0 5
Atrial fibrillation, familial, 13 3 0 1 0 0 0 4
Cardiac arrhythmia 0 1 0 0 1 0 2
Cardiac conduction defect, nonspecific 2 0 0 0 0 0 2
Brugada syndrome 0 0 1 0 0 0 1
Cardiomyopathy 1 0 0 0 0 0 1
Childhood absence epilepsy 0 0 1 0 0 0 1
Death in early adulthood 1 0 0 0 0 0 1
Generalized epilepsy with febrile seizures plus 1 0 0 0 0 0 1
Long QT syndrome 0 0 0 1 0 0 1
Rolandic epilepsy 1 0 0 0 0 0 1
SCN1B-Related Disorder 0 0 0 0 0 1 1
Ventricular fibrillation 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 1 80 35 16 0 134
GeneDx 4 3 42 49 31 0 129
Illumina Clinical Services Laboratory,Illumina 0 0 18 12 26 0 41
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 8 2 7 0 19
Ambry Genetics 1 1 6 6 4 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 6 0 0 14
Integrated Genetics/Laboratory Corporation of America 1 1 2 2 7 0 13
OMIM 11 0 0 0 0 0 11
Athena Diagnostics Inc 1 0 3 2 3 0 9
Genetic Services Laboratory,University of Chicago 1 1 2 3 0 0 7
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 2 0 4 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 4 0 1 0 5
PreventionGenetics,PreventionGenetics 0 0 0 2 3 0 5
Fulgent Genetics,Fulgent Genetics 1 1 3 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 0 2
Mendelics 0 0 0 0 2 0 2
Blueprint Genetics 0 0 1 1 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 1 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 1 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1

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