ClinVar Miner

Variants in gene combination CACNA1A, LOC126862864

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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
13 11 39 26 3 3 84

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 5 1 18 22 1 1 47
not provided 8 4 17 3 3 0 31
Developmental and epileptic encephalopathy, 42 1 4 2 0 0 0 6
not specified 0 0 4 1 1 0 6
CACNA1A-related disorder 0 1 1 2 0 0 4
Episodic ataxia type 2 2 2 0 0 0 1 3
Inborn genetic diseases 1 0 1 1 0 0 3
Migraine, familial hemiplegic, 1 1 1 1 0 0 1 3
Episodic ataxia type 2; Migraine, familial hemiplegic, 1 0 1 0 0 0 0 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 1 0 0 0 0 0 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52 1 0 0 0 0 0 1
Migraine 0 1 0 0 0 0 1
Neurodevelopmental delay 0 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 1 0 0 0 0 1
Spinocerebellar ataxia type 6 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 5 1 18 22 1 0 47
GeneDx 7 0 9 2 3 0 21
Athena Diagnostics 0 0 6 1 1 0 8
CeGaT Center for Human Genetics Tuebingen 1 3 1 1 0 0 6
PreventionGenetics, part of Exact Sciences 0 1 1 2 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 4
Ambry Genetics 1 0 1 1 0 0 3
Revvity Omics, Revvity 1 0 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 1 0 0 3
Eurofins Ntd Llc (ga) 1 0 2 0 0 0 3
3billion 1 1 1 0 0 0 3
OMIM 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Baylor Genetics 1 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 0 0 1
Wendy Chung Laboratory, Boston Children's Hospital 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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