ClinVar Miner

Variants in gene CACNA2D4

Minimum submission review status: Collection method:
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Gene type:
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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
6 6 99 32 31 2 147

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cone dystrophy 3 0 0 78 26 12 0 116
not specified 0 0 1 4 25 0 30
not provided 3 3 18 0 0 2 24
Retinal cone dystrophy 4 3 0 7 3 0 0 11
Abnormality of the eye 0 1 0 0 0 0 1
Cone/cone-rod dystrophy 0 1 0 0 0 0 1
Progressive cone dystrophy (without rod involvement) 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 83 26 12 0 121
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 10 4 11 0 26
PreventionGenetics 0 0 0 0 19 0 19
GeneDx 0 2 3 0 0 0 5
Lineagen Inc. 3 0 3 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 3 0 0 4
OMIM 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 0 0 0 2
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 2 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 0 0 0 0 1

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