ClinVar Miner

Variants in gene combination SCN1A, SCN9A

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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 uncertain risk allele not provided total
111 43 1358 715 147 1 19 2134

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele not provided total
Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 75 23 1109 616 66 0 0 1889
not provided 15 10 207 51 31 0 0 288
Inborn genetic diseases 2 3 166 80 0 0 0 251
Paroxysmal extreme pain disorder 10 0 67 14 109 0 0 199
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 15 3 96 25 48 0 0 184
Primary erythromelalgia 6 2 67 11 96 0 10 180
not specified 1 0 24 58 39 0 0 100
Small fiber neuropathy 4 0 20 37 27 0 0 87
Inherited Erythromelalgia 0 0 19 38 23 0 0 80
SCN9A-related condition 0 0 5 23 4 0 0 32
Congenital Indifference to Pain 0 0 7 6 11 0 0 24
Generalized epilepsy with febrile seizures plus, type 7 1 0 19 1 1 0 0 20
Severe myoclonic epilepsy in infancy 0 1 10 4 3 0 0 18
Generalized epilepsy with febrile seizures plus 0 0 8 4 3 0 0 15
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 7 4 0 0 4 15
Febrile seizures, familial 0 0 7 4 3 0 0 14
Neuropathy, hereditary sensory and autonomic, type 2A 0 2 6 2 3 0 0 12
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 0 0 10 0 0 0 0 10
Childhood epilepsy with centrotemporal spikes 5 0 0 0 0 0 0 5
Early infantile epileptic encephalopathy with suppression bursts 2 0 2 0 0 0 0 4
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus 0 0 0 0 0 0 4 4
Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 4 0 0 0 0 4
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 0 0 3 0 0 0 0 3
Seizure 0 0 3 0 0 0 0 3
Charcot-Marie-Tooth disease 0 0 2 0 0 0 0 2
Acute episodes of neuropathic symptoms; Abnormality of pain sensation 0 1 0 0 0 0 0 1
Autism spectrum disorder 0 0 0 0 0 1 0 1
Febrile seizures, familial, 1 0 0 1 0 0 0 0 1
Generalized non-motor (absence) seizure; Abnormal brainstem MRI signal intensity 0 0 1 0 0 0 0 1
Global developmental delay; Seizure; Hypoglycemia 0 0 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type IId 1 0 0 0 0 0 0 1
Pain insensitivity 1 0 0 0 0 0 0 1
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Generalized epilepsy with febrile seizures plus 0 0 0 0 0 0 1 1
Primary erythromelalgia; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 1 0 0 1
SCN9A-related disorders 0 0 1 0 0 0 0 1
SCN9A-related peripheral neuropathies associated with increased pain 1 0 0 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele not provided total
Invitae 76 23 1109 618 66 0 0 1892
Ambry Genetics 2 3 166 80 0 0 0 251
GeneDx 7 6 110 47 29 0 0 199
Illumina Laboratory Services, Illumina 1 0 102 74 106 0 0 188
Eurofins Ntd Llc (ga) 0 1 45 7 23 0 0 76
PreventionGenetics, part of Exact Sciences 0 0 5 33 22 0 0 60
CeGaT Center for Human Genetics Tuebingen 4 0 32 20 1 0 0 57
Athena Diagnostics Inc 0 0 11 7 16 0 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 15 5 11 0 0 32
Genetic Services Laboratory, University of Chicago 0 0 7 20 0 0 0 27
Revvity Omics, Revvity 2 2 23 0 0 0 0 27
Mayo Clinic Laboratories, Mayo Clinic 1 0 26 0 0 0 0 27
Clinical Genetics, Academic Medical Center 0 0 5 7 13 0 0 25
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 4 16 5 0 0 25
OMIM 19 0 2 0 0 0 0 21
Fulgent Genetics, Fulgent Genetics 0 0 17 4 0 0 0 21
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 11 7 0 0 20
Baylor Genetics 2 2 12 0 0 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 10 4 0 0 0 15
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 7 2 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 2 7 0 0 11
GeneReviews 0 0 0 0 0 0 10 10
Mendelics 2 2 0 3 2 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 7 0 1 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 6 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 7 7
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 5 0 0 0 0 0 0 5
New York Genome Center 1 0 5 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 1 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 1 0 0 0 3
Xenon Pharmaceuticals, Inc. 3 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 1 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Inherited Neuropathy Consortium 0 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 0 0 2
Neuroalgology unit, Genetics of Neuropathic Pain Laboratory, Fondazione IRCCS Istituto Neurologico Carlo Besta 2 0 0 0 0 0 0 2
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 2 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
New Leaf Center 0 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Gene Friend Way, National Innovation Center 0 0 0 0 0 1 0 1

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