ClinVar Miner

Variants in gene CRX

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
48 32 161 62 73 38 315

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Leber congenital amaurosis 7 17 2 77 22 30 0 148
Cone-rod dystrophy 2 6 2 56 10 63 0 137
Retinitis pigmentosa 2 3 65 25 42 0 137
Leber congenital amaurosis 7; Cone-rod dystrophy 2 12 2 63 11 8 0 96
not provided 4 9 10 10 2 38 65
Retinal dystrophy 6 11 5 0 0 0 22
Leber congenital amaurosis 2 1 4 1 3 0 11
Cone-Rod Dystrophy, Dominant 0 0 4 1 3 0 8
Retinitis Pigmentosa, Dominant 0 0 4 1 3 0 8
not specified 0 0 0 3 5 0 8
Leber congenital amaurosis 1 1 1 1 2 0 0 5
Autosomal dominant retinitis pigmentosa 3 0 0 0 0 0 3
Benign concentric annular macular dystrophy 3 0 0 0 0 0 3
Stargardt disease 0 2 0 0 0 0 2
none provided 0 0 0 0 2 0 2
Central core myopathy 0 0 0 0 1 0 1
Cone-rod dystrophy 0 1 0 0 0 0 1
Macular dystrophy 0 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Usher syndrome 0 0 1 0 0 0 1
maculopathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 81 43 66 0 137
Invitae 12 2 63 17 9 0 103
Retina International 0 0 0 0 0 38 38
Blueprint Genetics 6 9 4 0 0 0 19
Laboratory of Genetics in Ophthalmology,Institut Imagine 12 0 0 0 0 0 12
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 1 3 2 4 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 1 4 4 2 0 0 11
OMIM 10 0 0 0 0 0 10
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 4 3 0 0 0 7
GeneDx 0 2 3 1 0 0 6
Mendelics 1 1 1 2 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 3 0 4
Department of Ophthalmology and Visual Sciences Kyoto University 2 1 0 1 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 2 1 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Faculty of Health Sciences,Beirut Arab University 3 0 0 0 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 2 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 0 2
Institute of Vision Research, Yonsei University College of Medicine 2 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1

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