ClinVar Miner

Variants in gene combination SCN1A, SCN9A

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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 drug response not provided total
126 56 1592 797 149 1 44 2503

Condition and significance breakdown #

Total conditions: 57
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 88 25 1298 718 67 0 0 2196
not provided 16 17 259 74 43 0 0 378
Inborn genetic diseases 3 4 267 84 0 0 0 358
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 18 7 98 26 48 0 0 192
Primary erythromelalgia 6 3 74 11 96 0 10 187
Paroxysmal extreme pain disorder 11 0 62 8 99 0 0 179
not specified 1 0 53 86 53 0 0 164
SCN9A-related disorder 0 1 9 23 4 0 0 37
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 1 12 4 0 0 4 21
Generalized epilepsy with febrile seizures plus, type 7 1 0 18 1 1 0 0 19
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
Developmental and epileptic encephalopathy 4 0 2 0 0 0 0 6
Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 6 0 0 0 0 6
Gastric cancer 0 0 0 0 0 0 5 5
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 5 5
Self-limited epilepsy with centrotemporal spikes 5 0 0 0 0 0 0 5
Acute myeloid leukemia 0 0 0 0 0 0 4 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 4 4
Severe myoclonic epilepsy in infancy 0 1 3 0 0 0 0 4
Small fiber neuropathy 4 0 0 0 0 0 0 4
Lung cancer 0 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 0 3 3
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
Charcot-Marie-Tooth disease 0 0 2 0 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 2 2
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 2 2
Sarcoma 0 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 2 2
Acute episodes of neuropathic symptoms; Abnormality of pain sensation 0 1 0 0 0 0 0 1
Autism spectrum disorder 0 0 1 0 0 0 0 1
Cervical cancer 0 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 0 1 1
Febrile seizures, familial, 1 0 0 1 0 0 0 0 1
Generalized epilepsy with febrile seizures plus 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
Hereditary ataxia 0 0 0 0 1 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 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; Paroxysmal extreme pain disorder 0 0 1 0 0 0 0 1
Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus; Small fiber neuropathy 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
Propofol response 0 0 0 0 0 1 0 1
SCN9A-related neuropathic pain syndromes 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
Seizure 0 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Labcorp Genetics (formerly Invitae), Labcorp 91 25 1298 720 67 0 0 2201
Ambry Genetics 3 4 267 84 0 0 0 358
GeneDx 9 8 146 47 29 0 0 239
Illumina Laboratory Services, Illumina 1 0 93 27 95 0 0 163
CeGaT Center for Human Genetics Tuebingen 4 1 47 33 2 0 0 87
Mayo Clinic Laboratories, Mayo Clinic 3 4 43 10 20 0 0 80
Eurofins Ntd Llc (ga) 0 1 45 7 23 0 0 76
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 40 32 2 0 0 76
PreventionGenetics, part of Exact Sciences 0 0 8 33 22 0 0 63
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 23 9 12 0 0 45
Breakthrough Genomics, Breakthrough Genomics 0 0 4 16 23 0 0 43
Athena Diagnostics 0 0 16 8 15 0 0 39
Revvity Omics, Revvity 2 2 25 0 0 0 0 29
Genetic Services Laboratory, University of Chicago 0 0 7 20 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
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 22 22
Fulgent Genetics, Fulgent Genetics 0 0 18 4 0 0 0 22
OMIM 19 0 2 0 0 0 0 21
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 11 7 0 0 20
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 20 0 0 20
Baylor Genetics 2 2 12 0 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 10 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 7 0 1 0 0 9
Mendelics 2 2 0 3 2 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 6 0 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 2 1 0 0 0 6
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 5 0 0 0 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 3 1 0 0 5
New York Genome Center 1 0 4 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 1 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 1 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 0 0 3
Xenon Pharmaceuticals, Inc. 3 0 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 1 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 2 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 2
Clinical Neuroscience, 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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 1 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 0 2 0 0 0 0 2
Inherited Neuropathy Consortium 0 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 1 0 0 2
3billion 0 0 1 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 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
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Gene Friend Way, National Innovation Center 0 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
New Leaf Center 0 0 0 0 1 0 0 1
Next Generation Genetic Polyclinic 0 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 1
Pio d'adamo Lab, University Of Trieste 0 0 0 0 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 1

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