ClinVar Miner

Variants in gene combination GH-LCR, 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
46 16 216 162 64 1 444

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 24 12 71 94 36 0 225
Hyperkalemic Periodic Paralysis Type 1 27 2 113 7 10 0 158
Paramyotonia congenita of von Eulenburg 10 1 33 44 20 0 108
Potassium aggravated myotonia 5 0 33 44 20 0 102
Congenital Myasthenic Syndrome, Recessive 0 0 33 44 20 0 97
Hyperkalemic Periodic Paralysis 0 0 33 44 20 0 97
Hypokalemic periodic paralysis 0 0 33 44 20 0 97
not specified 0 0 20 54 25 0 90
Hypokalemic periodic paralysis 1; Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; 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; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 0 0 0 0 9 0 9
Hypokalemic periodic paralysis, type 2 4 0 0 0 0 0 4
Paramyotonia congenita/hyperkalemic periodic paralysis 4 0 0 0 0 0 4
Congenital myasthenic syndrome, acetazolamide-responsive 3 0 0 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
Familial hyperkalemic periodic paralysis 2 0 0 0 0 0 2
Muscular Diseases 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
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 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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 2 113 91 31 0 256
GeneDx 16 7 15 44 27 0 109
Athena Diagnostics Inc 15 5 44 8 26 0 98
Illumina Clinical Services Laboratory,Illumina 0 0 33 44 20 0 97
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 8 1 0 0 11
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 1 1 0 4
Baylor Genetics 1 0 1 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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 0 1 0 1

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