ClinVar Miner

Variants in gene KCNMA1

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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
14 9 297 165 35 454

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 6 2 251 130 25 389
not provided 2 4 55 38 10 104
not specified 0 0 5 17 14 29
Cerebellar atrophy, developmental delay, and seizures 2 1 2 0 0 5
Liang-Wang syndrome 5 1 0 0 0 5
Intellectual disability 0 1 1 2 0 4
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; Cerebellar atrophy, developmental delay, and seizures 0 0 2 0 0 2
Autism spectrum disorder 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 16 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
KCNMA1-related disorders 1 0 0 0 0 1
Seizures 0 0 1 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 1
Spastic ataxia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 0 166 123 22 315
Illumina Clinical Services Laboratory,Illumina 0 0 85 25 8 118
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 30 7 9 46
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 20 7 0 29
Athena Diagnostics Inc 0 0 2 5 13 20
Genetic Services Laboratory, University of Chicago 0 0 3 10 1 14
OMIM 10 0 0 0 0 10
GeneDx 1 3 2 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 6 0 0 6
New York Genome Center 0 0 5 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 4 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 4 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 2 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 1 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
Centre of Medical Genetics, University of Antwerp 1 1 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 1
Ambry Genetics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1

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