ClinVar Miner

Variants in gene CRX

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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
77 43 247 125 85 38 502

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Leber congenital amaurosis 7; Cone-rod dystrophy 2 45 8 153 79 14 0 299
Leber congenital amaurosis 7 18 2 76 22 30 1 149
Cone-rod dystrophy 2 9 5 57 10 62 0 143
Retinitis pigmentosa 3 4 65 24 42 0 138
not provided 6 15 12 9 16 38 79
Retinal dystrophy 6 11 5 0 0 0 22
Inborn genetic diseases 0 0 12 0 0 0 12
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 1 2 0 0 0 0 3
Cone-rod dystrophy 1 1 0 0 0 0 2
Retinitis pigmentosa; Leber congenital amaurosis 7; Cone-rod dystrophy 2 0 0 0 1 1 0 2
CRX-related condition 0 1 0 0 0 0 1
Central core myopathy 0 0 0 0 1 0 1
Congenital blindness 1 0 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: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 45 8 153 81 14 0 301
Illumina Laboratory Services, Illumina 0 0 80 42 65 0 136
Retina International 0 0 0 0 0 38 38
GeneDx 2 6 5 5 15 0 33
Blueprint Genetics 6 9 4 0 0 0 19
CeGaT Center for Human Genetics Tuebingen 1 5 4 3 0 0 13
Ambry Genetics 0 0 12 0 0 0 12
Laboratory of Genetics in Ophthalmology, Institut Imagine 12 0 0 0 0 0 12
Eurofins Ntd Llc (ga) 1 1 3 2 4 0 11
OMIM 10 0 0 0 0 0 10
Mendelics 3 2 1 2 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 3 0 0 0 7
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
Preventiongenetics, part of Exact Sciences 0 1 0 0 2 0 3
Clinical Genetics, Academic Medical Center 0 1 0 2 0 0 3
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 1 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
3billion 1 2 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1 0 2
Department Of Translational Genomics (developmental Genetics Section), 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
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 1 0 2
Institute of Vision Research, Yonsei University College of Medicine 2 0 0 0 0 0 2
DBGen Ocular Genomics 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Genome-Nilou Lab 1 0 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 0 0 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1

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