ClinVar Miner

Variants in gene combination CACNA1A, LOC108663985

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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
1 0 5 10 8 18

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic uncertain significance likely benign benign total
not provided 0 2 9 6 13
CACNA1A-related disorder 0 2 2 2 6
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 0 0 2 2 4
not specified 0 0 0 4 4
Spinocerebellar ataxia type 6 1 0 0 2 3
Developmental and epileptic encephalopathy, 42 0 0 1 1 2
Episodic ataxia type 2 1 0 0 1 2
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 0 0 1 0 1
Inborn genetic diseases 0 1 0 0 1
Migraine, familial hemiplegic, 1 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic uncertain significance likely benign benign total
CeGaT Center for Human Genetics Tuebingen 0 1 6 2 9
GeneDx 0 1 0 5 6
PreventionGenetics, part of Exact Sciences 0 2 2 2 6
Fulgent Genetics, Fulgent Genetics 0 0 2 2 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 3 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 2
OMIM 1 0 0 0 1
Ambry Genetics 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 1
Labcorp Genetics (formerly Invitae), Labcorp 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 1 1
Genome-Nilou Lab 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 1

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