ClinVar Miner

Variants in gene SCN4A

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Gene type:
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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
37 22 397 277 93 10 720

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hyperkalemic periodic paralysis 28 10 293 230 55 7 592
not provided 7 6 142 46 43 0 231
Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2 1 61 26 0 0 90
Congenital myasthenic syndrome 16 3 1 44 5 9 0 62
Hypokalemic periodic paralysis, type 2 4 0 18 8 29 7 62
not specified 0 0 13 19 36 0 61
Paramyotonia congenita of Von Eulenburg 2 0 22 8 29 0 60
Potassium-aggravated myotonia 2 0 16 8 31 0 57
Inborn genetic diseases 1 1 23 1 0 0 26
SCN4A-related condition 1 3 3 14 2 0 23
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 0 0 0 0 6 1 7
SCN4A-related non-dystrophic myotonia 1 1 1 0 0 0 3
Congenital myopathy 22A, classic 2 0 0 0 0 0 2
Congenital myopathy 22B, severe fetal 2 0 0 0 0 0 2
Microcephaly 0 0 2 0 0 0 2
Acetazolamide-responsive myotonia 1 0 0 0 0 0 1
Batten-Turner congenital myopathy 0 1 0 0 0 0 1
Congenital myasthenic syndrome 0 0 0 0 0 1 1
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 0 1 0 0 0 0 1
Hypokalemic periodic paralysis 1 0 0 0 0 0 1
Hypokalemic periodic paralysis, type 1 1 0 0 0 0 0 1
Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis 0 0 1 0 0 0 1
Muscle weakness; Distal sensory impairment; Limb pain; Pain; EMG: myotonic discharges 0 1 0 0 0 0 1
Muscle weakness; Myotonia 0 0 1 0 0 0 1
SCN4A-related myopathy, autosomal recessive 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 27 7 277 229 39 0 579
GeneDx 4 4 58 40 42 0 148
Fulgent Genetics, Fulgent Genetics 2 1 61 26 0 0 90
Revvity Omics, Revvity 2 2 73 1 0 0 78
Athena Diagnostics Inc 3 2 19 2 39 0 65
Illumina Laboratory Services, Illumina 0 0 44 14 31 0 58
PreventionGenetics, part of Exact Sciences 1 3 3 18 16 0 41
CeGaT Center for Human Genetics Tuebingen 3 0 13 14 2 0 32
Ambry Genetics 1 1 23 1 0 0 26
OMIM 11 0 0 0 0 0 11
Eurofins Ntd Llc (ga) 0 0 3 1 6 0 10
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 4 2 4 0 0 0 10
GeneReviews 0 0 0 0 0 9 9
Genetic Services Laboratory, University of Chicago 0 0 2 3 3 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 6 0 0 0 7
Gharavi Laboratory, Columbia University 0 0 7 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 1 0 6
Baylor Genetics 1 0 4 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 2 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 2 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
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 0 1 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Cirak Lab, University Hospital Cologne 0 1 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
3billion 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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