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 total
78 25 729 303 132 1078

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 37 13 568 176 43 837
Paroxysmal extreme pain disorder 10 0 65 14 106 195
not provided 10 6 108 62 16 191
Indifference to pain, congenital, autosomal recessive 9 1 92 25 44 170
Primary erythromelalgia 10 0 61 10 93 169
not specified 1 0 19 66 34 94
Small fiber neuropathy 4 0 20 37 27 87
Inherited Erythromelalgia 0 0 19 38 23 80
Congenital Indifference to Pain 0 0 7 6 11 24
Generalized epilepsy with febrile seizures plus, type 7 1 0 17 1 1 18
Severe myoclonic epilepsy in infancy 0 1 10 4 3 18
Generalized epilepsy with febrile seizures plus 0 0 8 4 3 15
Familial febrile seizures 0 0 7 4 3 14
none provided 0 0 3 1 9 13
Hereditary sensory and autonomic neuropathy type IIA 0 2 7 2 2 12
Primary erythromelalgia; Hereditary sensory and autonomic neuropathy type IIA; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Indifference to pain, congenital, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 0 0 10 0 0 10
Rolandic epilepsy 5 0 0 0 0 5
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Indifference to pain, congenital, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 0 0 3 0 0 3
Charcot-Marie-Tooth disease 0 0 2 0 0 2
Early infantile epileptic encephalopathy with suppression bursts 1 0 1 0 0 2
Inborn genetic diseases 1 1 0 0 0 2
Seizures 0 0 2 0 0 2
Absence seizures; Abnormal brainstem MRI signal intensity 0 0 1 0 0 1
Acute episodes of neuropathic symptoms; Abnormality of pain sensation 0 1 0 0 0 1
Febrile seizures, familial, 1 0 0 1 0 0 1
Global developmental delay; Seizures; Hypoglycemia 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID 1 0 0 0 0 1
Pain insensitivity 1 0 0 0 0 1
Primary erythromelalgia; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 1 1
SCN9A-related disorders 0 0 1 0 0 1
SCN9A-related peripheral neuropathies associated with increased pain 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 38 13 568 209 43 871
Illumina Clinical Services Laboratory,Illumina 1 0 102 74 106 188
GeneDx 6 5 50 43 5 109
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 45 7 23 76
Athena Diagnostics Inc 0 0 9 7 16 32
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 21 6 0 29
PreventionGenetics, PreventionGenetics 0 0 0 10 18 28
Genetic Services Laboratory, University of Chicago 0 0 7 20 0 27
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 11 2 11 25
OMIM 19 0 2 0 0 21
Baylor Genetics 3 0 10 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 7 2 12
GeneReviews 10 0 0 0 1 11
Fulgent Genetics,Fulgent Genetics 0 0 10 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 7 0 1 9
Mendelics 1 2 1 2 1 7
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 5 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 1 0 4
Xenon Pharmaceuticals, Inc. 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1 0 2
Ambry Genetics 1 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 1 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Inherited Neuropathy Consortium 0 0 2 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 1 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Blueprint Genetics 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
New Leaf Center 0 0 0 0 1 1
Breda Genetics srl 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
New York Genome Center 0 0 1 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 1

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