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
43 13 168 100 50 1 326

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hyperkalemic Periodic Paralysis Type 1 23 2 73 28 27 0 152
Paramyotonia congenita of von Eulenburg 11 0 33 44 20 0 108
Potassium aggravated myotonia 5 0 33 44 20 0 102
not provided 24 10 59 2 8 0 100
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
Normokalemic periodic paralysis, potassium-sensitive 3 0 0 0 0 0 3
Congenital myasthenic syndrome 2 0 0 0 0 0 2
Congenital myasthenic syndrome, acetazolamide-responsive 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
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: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 2 73 28 27 0 142
Illumina Clinical Services Laboratory,Illumina 0 0 33 44 20 0 97
GeneDx 16 7 15 35 19 0 92
Athena Diagnostics Inc 15 3 36 5 22 0 81
OMIM 25 0 1 0 0 0 26
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 3 1 7 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 5 1 0 0 8
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 Miraca Genetics Laboratories, 1 0 1 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
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
Broad Institute Rare Disease Group,Broad Institute 0 0 0 0 1 0 1

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