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
50 15 305 161 78 517

Condition and significance breakdown #

Total conditions: 27
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 10 7 201 54 40 312
Paroxysmal extreme pain disorder 10 0 31 68 39 148
Inherited Erythromelalgia 0 0 31 70 39 140
Small fiber neuropathy 4 0 31 68 39 140
Congenital Indifference to Pain 0 0 31 68 40 139
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 provided 6 6 96 15 15 131
not specified 1 0 15 66 35 91
Primary erythromelalgia 9 0 3 0 1 13
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
Indifference to pain, congenital, autosomal recessive 7 0 1 0 0 8
Generalized epilepsy with febrile seizures plus, type 7 2 0 5 1 0 7
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
Absence seizures; Abnormal brainstem MRI signal intensity 0 0 1 0 0 1
Early infantile epileptic encephalopathy 0 0 1 0 0 1
Febrile seizures, familial, 1 0 0 1 0 0 1
Global developmental delay; Seizures; Hypoglycemia 0 0 1 0 0 1
Hereditary sensory and autonomic neuropathy 0 1 0 0 0 1
Hereditary sensory and autonomic neuropathy type IIA 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: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 7 202 54 40 313
Illumina Clinical Services Laboratory,Illumina 0 0 33 71 40 144
GeneDx 6 5 50 40 5 106
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 45 7 23 76
PreventionGenetics 0 0 0 10 18 28
Genetic Services Laboratory, University of Chicago 0 0 7 20 0 27
Athena Diagnostics Inc 0 0 8 7 11 26
OMIM 20 0 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 5 1 7 14
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 5 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 7 2 12
GeneReviews 9 0 0 0 1 10
Fulgent Genetics 0 0 10 0 0 10
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 Miraca Genetics Laboratories, 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Ambry Genetics 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,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

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.