ClinVar Miner

Variants in gene SCN10A

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
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 1 163 95 36 1 283

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Brugada syndrome 0 1 121 47 25 0 194
not specified 0 0 8 67 24 0 98
not provided 0 0 45 2 1 0 48
Episodic pain syndrome, familial, 2 2 0 9 1 0 0 12
Abnormality of neuronal migration 0 0 1 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: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 118 47 25 0 190
GeneDx 0 0 45 67 22 0 134
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 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 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
Phosphorus, Inc. 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.