ClinVar Miner

Variants in gene SCN10A

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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 not provided total
2 2 389 213 73 1 648

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Brugada syndrome 0 1 333 114 32 0 480
not provided 0 0 73 73 31 0 175
not specified 0 0 8 67 24 0 98
Episodic pain syndrome, familial, 2 2 0 14 1 0 0 17
Brugada syndrome 1 0 0 5 4 1 0 10
Abnormality of neuronal migration 0 0 1 0 0 0 1
Impaired thermal sensitivity 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
SCN10A-Related Disorder 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Sodium channelopathy-related small fiber neuropathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 330 150 34 0 514
GeneDx 0 0 45 85 50 0 180
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 31 7 0 0 38
Mendelics 0 0 5 4 1 0 10
Fulgent Genetics,Fulgent Genetics 0 0 8 1 0 0 9
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 3 0 5 0 8
PreventionGenetics, PreventionGenetics 0 0 0 0 6 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 4 0 5
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 4 1 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 1 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 2 0 0 0 3
OMIM 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 0 2
Lineagen, Inc 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Ambry Genetics 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 0 1

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