ClinVar Miner

Variants in gene SCN10A

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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 2 1008 708 105 4 1643

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Brugada syndrome 0 1 594 425 47 0 1067
Cardiovascular phenotype 0 0 476 409 22 0 907
not provided 0 0 226 108 52 1 372
Episodic pain syndrome, familial, 2 2 0 75 14 8 2 100
not specified 0 0 13 45 39 0 92
SCN10A-related condition 0 0 5 37 3 0 45
Inborn genetic diseases 0 0 31 0 0 0 31
Brugada syndrome 1 0 0 8 4 2 0 14
Abnormality of neuronal migration 0 0 1 0 0 0 1
Impaired temperature sensation 0 1 0 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: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 592 429 47 0 1068
Ambry Genetics 0 0 507 409 22 0 937
GeneDx 0 0 179 116 64 0 359
Fulgent Genetics, Fulgent Genetics 0 0 56 14 1 0 71
CeGaT Center for Human Genetics Tuebingen 0 0 35 20 10 0 65
PreventionGenetics, part of Exact Sciences 0 0 5 37 9 0 51
Clinical Genetics, Academic Medical Center 0 0 6 11 28 0 45
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 5 25 13 0 43
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 6 3 13 0 22
Mayo Clinic Laboratories, Mayo Clinic 0 0 21 0 0 0 21
Mendelics 0 0 6 4 2 0 12
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 3 0 5 0 8
Revvity Omics, Revvity 0 0 7 0 0 0 7
MGZ Medical Genetics Center 0 0 7 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Eurofins Ntd Llc (ga) 0 0 1 0 4 0 5
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 4 1 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 2 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 0 4 0 0 0 4
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
OMIM 2 0 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Bionano Laboratories 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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
Phosphorus, Inc. 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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