ClinVar Miner

Variants in gene combination GH-LCR, SCN4A

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
79 60 758 440 136 20 1272

Condition and significance breakdown #

Total conditions: 42
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hyperkalemic periodic paralysis 57 17 578 359 84 12 1060
not provided 32 29 267 75 63 0 439
Paramyotonia congenita of Von Eulenburg 14 4 62 26 69 0 174
Potassium-aggravated myotonia 4 2 53 23 75 0 157
Hypokalemic periodic paralysis, type 2 6 2 57 25 66 3 156
Congenital myasthenic syndrome 16 6 3 106 6 34 0 154
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 6 1 79 37 1 0 124
not specified 1 0 23 45 32 0 91
Inborn genetic diseases 2 1 49 2 0 0 54
SCN4A-related condition 2 1 10 12 1 0 26
SCN4A-related non-dystrophic myotonia 6 5 3 0 0 0 14
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 0 0 1 0 8 2 11
Congenital Myasthenic Syndrome, Recessive 0 0 1 2 2 0 5
Hypokalemic periodic paralysis 0 0 1 2 2 0 5
Congenital myopathy 22A, classic 4 0 0 0 0 0 4
Hypokalemic periodic paralysis, type 1 3 0 1 0 0 0 4
Paramyotonia congenita/hyperkalemic periodic paralysis 4 0 0 0 0 0 4
Congenital myopathy 22B, severe fetal 1 2 0 0 0 0 3
Normokalemic periodic paralysis, potassium-sensitive 3 0 0 0 0 0 3
SCN4A-Related Disorders 2 1 0 0 0 0 3
Congenital myasthenic syndrome 0 0 0 0 0 2 2
Long QT syndrome 0 0 2 0 0 0 2
Myopathy 2 0 0 0 0 0 2
Myotonia fluctuans 2 0 0 0 0 0 2
Abnormality of the musculature 0 1 0 0 0 0 1
Acetazolamide-responsive myotonia 1 0 0 0 0 0 1
Congenital myopathy 0 1 0 0 0 0 1
Delayed gross motor development 1 0 0 0 0 0 1
Focal-onset seizure 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 permanens 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
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis 0 0 0 0 0 1 1
Rhabdomyolysis 0 1 0 0 0 0 1
SCN4A-related disorder 0 0 0 0 0 1 1
SUDDEN INFANT DEATH SYNDROME 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Severe neonatal hypotonia improving with age 0 0 1 0 0 0 1
Sotos syndrome 1 0 0 0 0 0 1
Tremor, hereditary essential, 6 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 55 15 529 348 41 0 988
GeneDx 23 14 89 68 68 0 262
Revvity Omics, Revvity 10 7 137 1 2 0 157
Illumina Laboratory Services, Illumina 0 1 106 32 75 0 151
Athena Diagnostics Inc 21 9 60 13 36 0 139
Fulgent Genetics, Fulgent Genetics 6 1 79 37 1 0 124
CeGaT Center for Human Genetics Tuebingen 15 4 19 18 1 0 57
Ambry Genetics 2 1 49 2 0 0 54
PreventionGenetics, part of Exact Sciences 2 1 10 18 20 0 51
OMIM 30 0 1 0 0 0 31
Genetic Services Laboratory, University of Chicago 0 0 3 12 8 0 23
Eurofins Ntd Llc (ga) 2 0 12 1 8 0 23
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 10 6 4 0 0 0 19
GeneReviews 1 0 0 0 0 17 18
MGZ Medical Genetics Center 7 3 7 0 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 2 1 7 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 6 0 0 0 8
Baylor Genetics 2 1 3 0 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 0 0 6
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 6
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 4 1 0 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 1 1 1 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 1 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 2 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
3billion 2 1 1 0 0 0 4
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 2 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 2
DASA 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Dept of Medical Biology, Uskudar University 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Robert's Program, Boston Children's Hospital 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
Pars Genome Lab 0 0 0 1 0 0 1
Cologne Center for Genomics, Faculty of Medicine, University of Cologne 1 0 0 0 0 0 1
Department of Neuromuscular Diseases, Third Hospital of Hebei Medical University 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.