ClinVar Miner

Variants in gene combination LOC114803470, SCN8A

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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
2 3 51 32 4 85

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Early infantile epileptic encephalopathy with suppression bursts 2 1 34 27 2 66
not provided 0 1 18 7 3 27
Inborn genetic diseases 0 0 7 3 0 10
not specified 0 0 1 3 1 5
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 0 0 1 1 0 2
Developmental and epileptic encephalopathy, 13 0 0 2 0 0 2
SCN8A-related condition 0 0 1 1 0 2
Cognitive impairment with or without cerebellar ataxia 0 1 0 0 0 1
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 0 0 1 0 0 1
Seizure 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 1 34 28 2 67
GeneDx 0 0 14 6 4 24
Ambry Genetics 0 0 7 3 0 10
CeGaT Center for Human Genetics Tuebingen 0 1 2 2 0 5
PreventionGenetics, part of Exact Sciences 0 0 1 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 1 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 1 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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