ClinVar Miner

Variants in gene SCN4A

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Minimum submission review status: Collection method:
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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
19 9 175 112 74 311

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hyperkalemic periodic paralysis 13 2 131 65 45 240
not provided 2 4 35 39 25 102
not specified 0 0 8 33 34 61
Congenital myasthenic syndrome, acetazolamide-responsive 3 0 43 5 9 60
Hypokalemic periodic paralysis, type 2 5 0 18 8 29 60
Paramyotonia congenita of von Eulenburg 1 0 20 8 29 57
Potassium-aggravated myotonia 2 0 16 8 31 57
Potassium-aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome, acetazolamide-responsive 0 0 0 0 7 7
Hypokalemic periodic paralysis 1; Potassium-aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome, acetazolamide-responsive 1 1 4 0 0 6
Hypokalemic periodic paralysis 1 5 0 0 0 0 5
Inborn genetic diseases 1 1 1 0 0 3
Microcephaly 0 0 2 0 0 2
Congenital myasthenic syndrome 1 0 0 0 0 1
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 1 0 0 0 1
Muscle weakness; Distal sensory impairment; Limb pain; Pain; EMG: myotonic discharges 0 1 0 0 0 1
Muscle weakness; Myotonia 0 0 1 0 0 1
Myotonia congenita 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 0 116 79 26 233
GeneDx 1 3 12 32 26 74
Illumina Clinical Services Laboratory,Illumina 0 0 41 14 31 55
Athena Diagnostics Inc 1 1 13 2 37 54
PreventionGenetics, PreventionGenetics 0 0 0 5 14 19
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 6 4 0 11
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 1 6 10
GeneReviews 8 0 0 0 2 9
OMIM 7 0 0 0 0 7
Gharavi Laboratory,Columbia University 0 0 7 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 2 2 2 6
Fulgent Genetics,Fulgent Genetics 1 1 4 0 0 6
Baylor Genetics 1 0 4 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 2 0 0 4
Ambry Genetics 1 1 1 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Cirak Lab,University Hospital Cologne 0 1 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 1

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