ClinVar Miner

Variants in gene combination SCN1A, SCN9A

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
62 20 502 233 131 765

Condition and significance breakdown #

Total conditions: 28
Download table as spreadsheet
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 21 9 339 92 43 504
Paroxysmal extreme pain disorder 10 0 65 14 106 195
not provided 7 6 106 60 16 186
Indifference to pain, congenital, autosomal recessive 8 1 92 24 44 169
Primary erythromelalgia 10 0 61 10 93 169
Generalized epilepsy with febrile seizures plus 0 0 31 69 39 139
Severe myoclonic epilepsy in infancy 0 1 32 68 39 139
Familial febrile seizures 0 0 31 68 39 138
not specified 1 0 18 66 36 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
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
Generalized epilepsy with febrile seizures plus, type 7 2 0 5 1 0 7
Hereditary sensory and autonomic neuropathy type IIA 0 2 2 2 1 6
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 1 0 1 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
Inborn genetic diseases 1 0 0 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
Seizures 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 22 9 340 135 43 549
Illumina Clinical Services Laboratory,Illumina 0 0 101 74 106 186
GeneDx 6 5 50 43 5 109
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 45 7 23 76
Athena Diagnostics Inc 0 0 8 6 15 29
PreventionGenetics,PreventionGenetics 0 0 0 10 18 28
Genetic Services Laboratory, University of Chicago 0 0 7 20 0 27
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 19 5 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 8 2 11 22
OMIM 21 0 0 0 0 21
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 0 3
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
Baylor Genetics 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 1 0 2
Division of Genomic Diagnostics,The 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
Inherited Neuropathy Consortium 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Ambry Genetics 1 0 0 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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.