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
9 6 322 87 60 2 454

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 3 3 229 75 20 2 324
Retinal cone dystrophy 4 5 0 100 18 51 0 170
not specified 0 0 1 4 25 0 30
Cone dystrophy 3 0 0 7 1 3 0 11
Retinal dystrophy 0 0 4 0 0 0 4
Abnormality of the eye 0 1 0 0 0 0 1
Cone dystrophy 0 1 0 0 0 0 1
Cone-rod degeneration 1 0 0 0 0 0 1
Progressive cone dystrophy (without rod involvement) 0 1 0 0 0 0 1
Retinitis pigmentosa 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 213 75 20 0 308
Illumina Clinical Services Laboratory,Illumina 0 0 102 18 53 0 173
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 10 4 11 0 26
PreventionGenetics, 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
Blueprint Genetics 0 0 4 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 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
Baylor Genetics 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 0 0 0 2
Mendelics 0 0 1 0 1 0 2
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 2 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1

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