ClinVar Miner

Variants in gene GUCY2D

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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
149 112 544 629 46 85 1417

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cone-rod dystrophy 6; Leber congenital amaurosis 1 96 15 448 606 36 1 1201
not provided 14 12 69 24 22 84 189
Leber congenital amaurosis 1 52 57 8 1 2 0 116
Inborn genetic diseases 2 0 38 0 0 0 40
not specified 1 0 8 4 18 0 30
Retinal dystrophy 6 9 15 0 0 0 28
Cone-rod dystrophy 6 12 4 7 0 4 0 26
GUCY2D-related condition 1 0 3 14 1 0 19
Leber congenital amaurosis 4 14 1 0 0 0 19
Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 2 1 9 2 2 0 16
Choroidal dystrophy, central areolar, 1 3 2 8 0 2 0 14
Night blindness, congenital stationary, type1i 6 0 1 0 2 0 9
Cone-rod dystrophy 1 3 1 0 0 0 5
Cone dystrophy 2 2 0 0 0 0 4
Autosomal recessive optic atrophy 1 1 0 0 0 0 2
Early-onset retinal dystrophy 2 0 0 0 0 0 2
Nystagmus; Abnormal electroretinogram 0 1 1 0 0 0 2
Progressive cone dystrophy (without rod involvement) 0 0 2 0 0 0 2
Retinitis pigmentosa 2 0 0 0 0 0 2
Congenital blindness 1 0 0 0 0 0 1
GUCY2D retinopathy 0 1 0 0 0 0 1
Visual impairment; Macular dystrophy 1 0 0 0 0 0 1
maculopathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 97 15 448 606 36 0 1202
Retina International 0 0 0 0 0 83 83
Laboratory of Genetics in Ophthalmology, Institut Imagine 38 38 2 1 0 0 79
GeneDx 9 4 25 8 17 0 63
Ambry Genetics 2 0 38 0 0 0 40
Eurofins Ntd Llc (ga) 3 1 22 1 9 0 36
CeGaT Center for Human Genetics Tuebingen 4 3 17 9 0 0 33
PreventionGenetics, part of Exact Sciences 1 0 3 17 9 0 30
Blueprint Genetics 6 7 13 0 0 0 26
OMIM 16 0 0 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 4 0 10 0 16
Fulgent Genetics, Fulgent Genetics 2 1 9 2 2 0 16
Mendelics 7 1 5 0 2 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 4 5 2 0 12
Sharon lab, Hadassah-Hebrew University Medical Center 4 7 0 0 0 0 11
Clinical Genetics, Academic Medical Center 0 0 2 2 5 0 9
Revvity Omics, Revvity 1 2 5 0 0 0 8
Institute of Vision Research, Yonsei University College of Medicine 2 6 0 0 0 0 8
3billion 3 4 1 0 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 3 0 1 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 5 0 0 0 7
DBGen Ocular Genomics 5 2 0 0 0 0 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 2 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 5 0 0 0 6
Genomics England Pilot Project, Genomics England 2 4 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 2 0 0 0 5
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 4 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 2 0 0 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 0 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 1 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 0 1 0 0 0 0 1
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Noruzinia Laboratory, Tarbiat Modares University 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER) 0 1 0 0 0 0 1

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