ClinVar Miner

Variants in gene combination LOC114803470, SCN8A

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Minimum submission review status: Collection method:
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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
0 0 16 8 2 23

Condition and significance breakdown #

Total conditions: 6
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Condition uncertain significance likely benign benign total
Early infantile epileptic encephalopathy 6 2 2 10
not provided 7 1 0 8
not specified 0 4 1 5
History of neurodevelopmental disorder 2 2 0 4
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 1 1 0 2
Cognitive impairment with or without cerebellar ataxia; Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter uncertain significance likely benign benign total
GeneDx 5 4 1 10
Invitae 6 2 2 10
Ambry Genetics 2 2 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 1 2
Illumina Clinical Services Laboratory,Illumina 1 1 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 1

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