ClinVar Miner

Variants in gene SCN3A

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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
9 10 365 170 36 1 565

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 3 7 350 165 33 0 540
not specified 0 0 6 5 6 0 17
Epilepsy, familial focal, with variable foci 4 5 1 6 0 0 0 11
Early infantile epileptic encephalopathy 62 3 1 5 0 1 0 10
Inborn genetic diseases 1 1 6 0 0 0 8
Early infantile epileptic encephalopathy 62; Epilepsy, familial focal, with variable foci 4 0 0 3 0 0 0 3
SCN3A-related neurodevelopmental sisorder 0 0 2 0 0 0 2
Intellectual disability 0 0 1 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Polymicrogyria; Developmental delay 0 1 0 0 0 0 1
SCN3A- Related Disorder 0 0 0 0 0 1 1
SCN3A-related neurodevelopmental disorder 0 0 1 0 0 0 1
Seizures; Intellectual disability 0 0 0 1 0 0 1
atypical cerebral palsy 0 1 0 0 0 0 1
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 3 305 161 27 0 497
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 28 4 5 0 37
Athena Diagnostics Inc 0 0 5 2 12 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 13 4 0 0 19
GeneDx 1 3 9 1 0 0 14
Ambry Genetics 1 1 6 0 0 0 8
OMIM 7 0 0 0 0 0 7
Baylor Genetics 1 0 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 4 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 0 3 0 0 0 3
New York Genome Center 0 0 2 1 0 0 3
Mendelics 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1

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