ClinVar Miner

Variants in gene 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
17 7 148 71 20 235

Condition and significance breakdown #

Total conditions: 17
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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 8 2 118 58 5 191
not provided 1 3 23 13 6 45
Primary erythromelalgia 5 1 13 4 12 33
Indifference to pain, congenital, autosomal recessive 2 0 19 3 6 30
Paroxysmal extreme pain disorder 1 0 12 4 12 28
Small fiber neuropathy 1 0 6 3 4 13
not specified 0 0 5 7 4 13
Inherited Erythromelalgia 0 0 2 3 1 6
Generalized epilepsy with febrile seizures plus, type 7 0 0 5 0 0 5
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 3 0 0 3
Febrile seizures, familial, 3b 0 0 2 0 0 2
Hereditary sensory and autonomic neuropathy type IIA 0 1 1 0 0 2
none provided 0 0 1 1 0 2
Epilepsy 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Pain insensitivity 1 0 0 0 0 1
Seizures 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 8 2 118 58 5 191
Illumina Clinical Services Laboratory,Illumina 0 0 19 10 12 28
GeneDx 0 2 12 6 1 21
OMIM 5 0 2 0 0 7
Athena Diagnostics Inc 0 1 3 1 2 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 1 0 6
GeneReviews 4 0 0 0 2 6
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 4 0 0 5
Baylor Genetics 0 1 3 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 1 0 4
Genetic Services Laboratory, University of Chicago 0 0 1 2 0 3
PreventionGenetics,PreventionGenetics 0 0 0 0 3 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
New York Genome Center 0 0 3 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Ambry Genetics 0 0 1 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 0 1
Neuroalgology unit, Genetics of Neuropathic Pain Laboratory,Fondazione IRCCS Istituto Neurologico Carlo Besta 1 0 0 0 0 1

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