ClinVar Miner

Variants in gene combination CACNA1A, LOC126862866

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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
7 7 22 22 5 1 58

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 2; Developmental and epileptic encephalopathy, 42 2 0 7 19 0 0 28
not provided 3 2 12 4 4 0 25
Episodic ataxia type 2 2 3 2 0 0 0 7
not specified 0 0 3 1 1 0 5
Inborn genetic diseases 0 0 2 1 0 0 3
CACNA1A-related disorder 0 0 0 1 0 1 2
Migraine, familial hemiplegic, 1 0 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 42 0 0 1 0 0 0 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 0 0 0 1 0 0 1
Tip-toe gait 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
Labcorp Genetics (formerly Invitae), Labcorp 2 0 7 19 0 0 28
GeneDx 3 2 5 4 4 0 18
CeGaT Center for Human Genetics Tuebingen 0 0 5 1 0 0 6
Breakthrough Genomics, Breakthrough Genomics 0 0 1 1 3 0 5
Ambry Genetics 0 0 2 1 0 0 3
OMIM 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Mendelics 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 1 0 0 0 0 1

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