ClinVar Miner

Variants in gene PCARE

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 total
112 34 641 296 83 1071

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 93 7 500 263 59 894
Retinitis pigmentosa 11 6 147 20 46 230
Retinal dystrophy 14 9 43 19 16 101
Retinitis pigmentosa 54 14 12 6 7 16 54
not specified 0 0 3 7 18 28
PCARE-related condition 2 0 2 9 1 14
Autosomal recessive retinitis pigmentosa 5 0 0 0 0 5
Retinitis Pigmentosa, Recessive 0 0 4 1 0 5
Cone-rod dystrophy 2 0 0 0 0 2
Cone-rod dystrophy 23 2 0 0 0 0 2
PCARE-related retinopathy 1 0 0 0 0 1
See cases 1 0 0 0 0 1
Stargardt disease 1 0 0 0 0 1
maculopathy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 88 1 477 249 57 872
Illumina Laboratory Services, Illumina 0 0 150 21 46 217
Dept Of Ophthalmology, Nagoya University 8 2 39 19 16 84
Eurofins Ntd Llc (ga) 5 0 22 7 16 50
CeGaT Center for Human Genetics Tuebingen 3 1 8 12 7 31
Blueprint Genetics 6 7 5 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 4 7 15
PreventionGenetics, part of Exact Sciences 2 0 2 9 1 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 5 4 12
GeneDx 2 3 4 2 0 11
Clinical Genetics, Academic Medical Center 1 0 1 3 5 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 0 0 0 0 8
OMIM 7 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 4 3 0 7
Sharon lab, Hadassah-Hebrew University Medical Center 6 1 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 7
DBGen Ocular Genomics 4 3 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 1 0 0 0 5
Faculty of Health Sciences, Beirut Arab University 5 0 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 2 0 0 3
INSERM U1051, Institut des Neurosciences de Montpellier 1 2 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 0 0 0 3
3billion 2 1 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 2 0 0 0 0 2
Revvity Omics, Revvity 1 0 1 0 0 2
Mendelics 0 0 0 1 1 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 1 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 0 0 0 0 1

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