ClinVar Miner

Variants in gene SCN11A

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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
8 8 822 476 119 7 1344

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 2 0 702 360 48 4 1110
not provided 2 3 95 82 90 0 259
Inborn genetic diseases 1 0 143 98 2 0 244
SCN11A-related condition 0 0 3 20 4 0 27
not specified 0 0 9 2 11 0 22
Hereditary sensory and autonomic neuropathy type 7 2 2 6 0 5 3 17
Familial episodic pain syndrome with predominantly lower limb involvement 5 1 4 0 5 0 15
Charcot-Marie-Tooth disease 0 0 8 0 0 0 8
Congenital sensory neuropathy with selective loss of small myelinated fibers 0 1 0 0 0 0 1
Hereditary motor neuron disease 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Sensory neuropathy 0 1 0 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 2 0 701 364 48 0 1115
Ambry Genetics 1 0 143 98 2 0 244
GeneDx 1 1 50 56 84 0 192
CeGaT Center for Human Genetics Tuebingen 1 1 20 16 11 0 49
PreventionGenetics, part of Exact Sciences 0 0 3 20 7 0 30
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 6 8 6 0 20
Clinical Genetics, Academic Medical Center 0 0 5 4 8 0 17
Mayo Clinic Laboratories, Mayo Clinic 0 0 13 0 0 0 13
Revvity Omics, Revvity 0 0 10 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 7 2 0 0 9
Inherited Neuropathy Consortium 0 0 8 0 0 0 8
OMIM 5 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 1 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Baylor Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Eurofins Ntd Llc (ga) 0 0 2 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 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 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1

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