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 total
7 1 190 36 28 260

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 0 0 171 36 25 232
not provided 1 1 16 0 0 18
Charcot-Marie-Tooth disease 0 0 7 0 0 7
not specified 0 0 2 0 3 5
Episodic pain syndrome, familial, 3 4 0 0 0 0 4
Neuropathy, hereditary sensory and autonomic, type VII 3 0 1 0 0 4

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 171 36 25 232
GeneDx 1 1 7 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 0 0 7
Inherited Neuropathy Consortium 0 0 7 0 0 7
OMIM 5 0 0 0 0 5
PreventionGenetics 0 0 0 0 3 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 0 0 2
GeneReviews 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1

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