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
14 5 106 74 38 2 206

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 2 0 52 19 13 0 84
not specified 0 0 14 47 31 0 84
not provided 6 3 50 13 7 1 76
Cardiac conduction defect, nonspecific 2 0 4 8 1 0 15
Brugada syndrome 0 0 5 8 1 0 14
Generalized epilepsy with febrile seizures plus 1 0 4 8 1 0 14
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
Atrial fibrillation, familial, 13 3 0 1 0 0 0 4
Generalized epilepsy with febrile seizures plus, type 1 2 1 2 0 0 0 4
Epileptic encephalopathy, early infantile, 52 2 0 1 0 0 0 3
Cardiac arrhythmia 0 1 0 0 1 0 2
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
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: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 4 3 42 49 31 0 129
Invitae 1 0 51 19 13 0 84
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 8 2 7 0 19
Ambry Genetics 1 1 6 6 4 0 18
Illumina Clinical Services Laboratory,Illumina 0 0 5 8 1 0 14
Integrated Genetics/Laboratory Corporation of America 1 1 1 1 6 0 10
OMIM 9 0 0 0 0 0 9
Athena Diagnostics Inc 1 0 3 2 2 0 8
Genetic Services Laboratory, University of Chicago 1 1 2 3 0 0 7
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 3 0 3 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 2 0 0 3
Blueprint Genetics 0 0 1 1 0 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 1 1 0 0 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 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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