ClinVar Miner

Variants in gene SCN10A

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 4 1442 954 122 10 2295

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cardiovascular phenotype 0 0 829 572 28 0 1429
Brugada syndrome 0 1 790 557 47 0 1395
not provided 0 0 342 133 63 1 518
not specified 0 0 43 88 56 0 169
Episodic pain syndrome, familial, 2 2 1 89 15 8 2 116
SCN10A-related disorder 0 0 8 42 3 1 54
Brugada syndrome 1 0 1 9 4 2 0 15
Lung cancer 0 0 0 0 0 2 2
Abnormality of neuronal migration 0 0 1 0 0 0 1
Autism 0 0 1 0 0 0 1
Cardiomyopathy 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Congenital long QT syndrome 0 0 1 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Hereditary sodium channelopathy-related small fibers neuropathy 0 0 1 0 0 0 1
Impaired temperature sensation 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 829 572 28 0 1429
Labcorp Genetics (formerly Invitae), Labcorp 0 0 788 561 47 0 1396
GeneDx 0 0 265 116 64 0 445
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 37 50 34 0 121
CeGaT Center for Human Genetics Tuebingen 0 0 58 42 7 0 107
Mayo Clinic Laboratories, Mayo Clinic 0 0 46 12 22 0 80
Fulgent Genetics, Fulgent Genetics 0 0 58 14 1 0 73
PreventionGenetics, part of Exact Sciences 0 0 8 42 9 0 59
Breakthrough Genomics, Breakthrough Genomics 0 0 5 15 37 0 57
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
Mendelics 0 0 6 4 2 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 0 0 0 10
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 3 0 5 0 8
Genome-Nilou Lab 0 0 0 0 7 0 7
MGZ Medical Genetics Center 0 0 7 0 0 0 7
Revvity Omics, Revvity 0 0 7 0 0 0 7
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 6 6
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
AiLife Diagnostics, AiLife Diagnostics 0 0 4 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 2 0 0 4
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 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
Clinical Genomics Laboratory, Stanford Medicine 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
MVZ Martinsried, Medicover Genetics 0 1 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Baylor Genetics 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
OMIM 2 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Dasa 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1

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