ClinVar Miner

Variants in gene KCNMA1

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 risk factor total
5 3 144 59 25 1 203

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Generalized epilepsy and paroxysmal dyskinesia 3 2 104 46 17 0 155
not provided 1 1 42 7 5 0 55
not specified 0 0 6 17 13 0 29
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 2 0 0 0 0 0 2
Generalized epilepsy and paroxysmal dyskinesia; CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 0 0 2 0 0 0 2
Autism spectrum disorder 0 0 1 0 0 0 1
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 0 0 0 0 0 1 1
Inborn genetic diseases 0 0 1 0 0 0 1
Spastic ataxia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 0 0 49 24 17 0 90
Illumina Clinical Services Laboratory,Illumina 0 0 56 20 0 0 76
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 30 7 9 0 46
Genetic Services Laboratory, University of Chicago 0 0 4 10 0 0 14
Athena Diagnostics Inc 0 0 2 2 7 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 1 0 0 10
OMIM 5 0 0 0 0 1 5
GeneDx 1 1 2 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 4 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 1 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 0 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 0 1
Ambry Genetics 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 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.