ClinVar Miner

Variants in gene SCN11A

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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 not provided total
8 5 362 141 33 2 541

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 1 0 335 114 30 1 480
not provided 1 3 25 42 0 0 70
Charcot-Marie-Tooth disease 0 0 8 0 0 0 8
Episodic pain syndrome, familial, 3 5 0 3 0 0 0 8
Neuropathy, hereditary sensory and autonomic, type VII 3 0 2 0 0 1 6
not specified 0 0 2 0 3 0 5
Congenital sensory neuropathy with selective loss of small myelinated fibers 0 1 0 0 0 0 1
Hereditary motor neuron disease 0 0 1 0 0 0 1
Sensory neuropathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 0 334 139 30 0 504
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 13 3 0 0 17
GeneDx 1 1 7 0 0 0 9
Inherited Neuropathy Consortium 0 0 8 0 0 0 8
OMIM 5 0 0 0 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 0 3 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 2 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1

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