ClinVar Miner

Variants in gene combination GH-LCR, SCN4A

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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
51 22 404 179 104 1 627

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial hyperkalemic periodic paralysis 34 4 305 104 78 0 493
not provided 29 14 75 65 23 0 198
Paramyotonia congenita of von Eulenburg 11 2 55 26 69 0 162
Potassium-aggravated myotonia 5 0 52 23 75 0 155
Congenital myasthenic syndrome, acetazolamide-responsive 3 0 105 6 34 0 148
Hypokalemic periodic paralysis, type 2 4 1 54 24 66 0 148
not specified 1 0 20 54 30 0 92
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 3 1 7 0 0 0 11
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 9 0 9
Congenital Myasthenic Syndrome, Recessive 0 0 1 2 2 0 5
Hyperkalemic Periodic Paralysis 0 0 1 2 2 0 5
Hypokalemic periodic paralysis 0 0 1 2 2 0 5
Paramyotonia congenita/hyperkalemic periodic paralysis 4 0 0 0 0 0 4
Inborn genetic diseases 0 1 2 0 0 0 3
Normokalemic periodic paralysis, potassium-sensitive 3 0 0 0 0 0 3
Congenital myasthenic syndrome 2 0 0 0 0 0 2
Myopathy 2 0 0 0 0 0 2
Focal seizures 0 0 0 1 0 0 1
Hypokalemic periodic paralysis 1 1 0 0 0 0 0 1
Joubert syndrome 17 0 0 0 1 0 0 1
Myotonia congenita, atypical, acetazolamide-responsive 1 0 0 0 0 0 1
Myotonia; Handgrip myotonia 1 0 0 0 0 0 1
Paramyotonia congenita/myotonia congenita 1 0 0 0 0 0 1
Rhabdomyolysis 0 1 0 0 0 0 1
SCN4A-Related Disorders 1 0 0 0 0 0 1
SCN4A-related disorder 0 0 0 0 0 1 1
Severe neonatal hypotonia improving with age 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 27 4 254 113 31 0 429
Illumina Clinical Services Laboratory,Illumina 0 0 105 32 75 0 149
Athena Diagnostics Inc 15 6 49 11 33 0 114
GeneDx 16 7 15 44 29 0 111
CeGaT Praxis fuer Humangenetik Tuebingen 13 3 7 8 0 0 31
OMIM 25 0 1 0 0 0 26
PreventionGenetics, PreventionGenetics 0 0 0 6 19 0 25
Genetic Services Laboratory, University of Chicago 0 0 3 12 8 0 23
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 12 1 8 0 23
GeneReviews 21 0 0 0 2 0 23
Fulgent Genetics,Fulgent Genetics 3 1 7 0 0 0 11
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
Baylor Genetics 1 1 3 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 1 1 0 4
Ambry Genetics 0 1 2 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 1 0 0 0 3
Undiagnosed Diseases Network,NIH 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
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 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 1 0 1

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