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
17 39 1258 792 96 34 2112

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 6 16 1157 772 94 0 1981
Inborn genetic diseases 1 1 144 26 0 0 172
Developmental and epileptic encephalopathy, 62 4 20 34 2 9 0 66
SCN3A-related disorder 0 0 23 21 6 1 51
Epilepsy, familial focal, with variable foci 4 7 3 29 0 8 1 46
not specified 0 0 3 8 27 0 37
Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 1 0 18 5 1 0 25
Developmental and epileptic encephalopathy 2 0 0 0 3 18 22
Seizure 1 2 2 0 0 0 5
See cases 0 0 3 0 0 0 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Epilepsy 1 1 0 0 0 0 2
Epilepsy, familial focal, with variable foci 1 0 0 2 0 0 0 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
SCN3A-Related Neurodevelopmental Disorder 0 0 2 0 0 0 2
SCN3A-related neurodevelopmental sisorder 0 0 2 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Congenital bilateral perisylvian syndrome 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 0 0 0 0 1 1
Epilepsy, focal, SCN3A related 0 0 0 0 0 1 1
Epilepsy, focal, SCN3A related; Developmental and epileptic encephalopathy, 62 0 0 0 0 0 1 1
Epilepsy, idiopathic generalized, susceptibility to, 7 0 0 1 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Genetic developmental and epileptic encephalopathy 0 0 1 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
Polymicrogyria; Developmental delay 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
atypical cerebral palsy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 9 833 744 56 0 1645
GeneDx 3 3 376 1 47 0 430
Ambry Genetics 1 1 144 26 0 0 172
CeGaT Center for Human Genetics Tuebingen 1 1 53 51 3 0 109
PreventionGenetics, part of Exact Sciences 0 0 21 21 6 0 48
Breakthrough Genomics, Breakthrough Genomics 0 0 2 11 34 0 47
Revvity Omics, Revvity 0 0 38 0 0 0 38
Eurofins Ntd Llc (ga) 0 0 28 4 5 0 37
Athena Diagnostics 0 1 8 2 14 0 25
Institute of Human Genetics, University of Leipzig Medical Center 0 12 8 0 0 0 20
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 2 14 0 20
Channelopathy-Associated Epilepsy Research Center 0 0 0 0 0 18 18
3billion 2 5 8 0 0 0 15
Fulgent Genetics, Fulgent Genetics 0 0 9 4 1 0 14
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 13 0 14
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 13 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 7 0 12
Neuberg Centre For Genomic Medicine, NCGM 0 1 8 0 0 0 9
Baylor Genetics 1 0 7 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
New York Genome Center 0 0 6 1 0 0 7
OMIM 7 0 0 0 0 0 7
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen 2 0 1 0 3 0 6
Illumina Laboratory Services, Illumina 0 0 6 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 4 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 2 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 2 0 0 1 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 2 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 3 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 1 1 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 1 0 3
Mendelics 1 1 1 0 0 0 3
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 1
Medical Genetics, Karadeniz Technical University 0 0 1 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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