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
114 58 251 133 90 38 552

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 81 9 139 84 14 0 327
Cone-rod dystrophy 2 10 9 61 10 62 0 150
Leber congenital amaurosis 7 18 2 77 23 30 1 149
Retinitis pigmentosa 3 5 65 24 42 0 139
not provided 6 16 21 20 43 38 124
Retinal dystrophy 12 20 22 3 10 0 61
Inborn genetic diseases 0 2 22 0 0 0 24
Leber congenital amaurosis 2 1 4 1 3 0 11
CRX-related disorder 1 1 1 5 1 0 9
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
Central core myopathy 0 0 0 0 1 0 1
Macular dystrophy 0 1 0 0 0 0 1
Prostate cancer 0 0 1 0 0 0 1
See cases 1 0 0 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: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 81 9 139 86 14 0 329
Illumina Laboratory Services, Illumina 0 0 80 42 65 0 136
Breakthrough Genomics, Breakthrough Genomics 0 0 6 11 32 0 49
Retina International 0 0 0 0 0 38 38
GeneDx 3 7 7 5 15 0 37
Ambry Genetics 0 2 22 0 0 0 24
Dept Of Ophthalmology, Nagoya University 2 4 7 2 9 0 24
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 5 4 10 1 1 0 21
Blueprint Genetics 6 9 4 0 0 0 19
CeGaT Center for Human Genetics Tuebingen 1 5 5 4 0 0 15
Laboratory of Genetics in Ophthalmology, Institut Imagine 12 0 0 0 0 0 12
PreventionGenetics, part of Exact Sciences 1 1 1 5 3 0 11
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
3billion 3 3 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 3 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 1 0 0 4
Department of Ophthalmology and Visual Sciences Kyoto University 2 1 0 1 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
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
SingHealth Duke-NUS Institute of Precision Medicine 1 2 0 0 0 0 3
Faculty of Health Sciences, Beirut Arab University 3 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1 0 2
Institute of Vision Research, Yonsei University College of Medicine 2 0 0 0 0 0 2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 1 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
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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 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
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
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 0 1

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