ClinVar Miner

Variants in gene KCNA1

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
18 6 186 83 62 1 308

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Episodic ataxia type 1 12 1 156 33 57 1 255
Episodic ataxia 0 0 32 28 10 0 70
Myokymia 0 0 29 13 11 0 53
not provided 2 2 23 15 8 0 49
not specified 0 0 3 5 5 0 12
Inborn genetic diseases 2 1 1 0 0 0 4
Myokymia 1 3 0 0 0 0 0 3
Myokymia 1 with hypomagnesemia 1 0 0 0 0 0 1
Paroxysmal kinesigenic dyskinesia 0 1 0 0 0 0 1
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 103 38 57 0 163
Invitae 1 0 59 40 4 0 104
Athena Diagnostics Inc 1 2 11 4 9 0 27
OMIM 15 0 0 0 0 0 15
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 4 1 4 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 1 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 1 3 0 0 4
GeneDx 0 1 3 0 0 0 4
Ambry Genetics 2 1 1 0 0 0 4
GeneReviews 4 0 0 0 0 0 4
Experimental Epileptology, AG Lerche,Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

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