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
91 85 233 87 24 84 509

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cone-rod dystrophy 6; Leber congenital amaurosis 1 29 5 171 66 15 0 286
not provided 9 6 38 22 2 84 145
Leber congenital amaurosis 1 45 46 7 1 0 0 96
Retinal dystrophy 6 9 15 0 0 0 28
Cone-rod dystrophy 6 13 4 5 0 2 0 23
not specified 1 0 2 4 13 0 19
Leber congenital amaurosis 4 13 0 0 0 0 17
Choroidal dystrophy, central areolar 1 3 2 7 0 0 0 11
none provided 1 0 1 0 7 0 9
Night blindness, congenital stationary, type1i 5 0 0 0 0 0 5
Cone dystrophy 2 2 0 0 0 0 4
Cone-rod degeneration 0 3 0 0 0 0 3
Early-onset retinal dystrophy 2 0 0 0 0 0 2
Inborn genetic diseases 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
Choroidal dystrophy, central areolar 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1 1 0 0 0 0 0 1
Cone-rod dystrophy 0 0 1 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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 5 171 78 15 0 299
Retina International 0 0 0 0 0 83 83
Laboratory of Genetics in Ophthalmology,Institut Imagine 38 38 2 1 0 0 79
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 1 22 1 9 0 36
Blueprint Genetics 6 7 13 0 0 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 4 3 14 4 0 0 25
OMIM 16 0 0 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 4 0 9 0 15
Mendelics 5 2 3 0 2 0 12
PreventionGenetics, PreventionGenetics 0 0 0 3 8 0 11
Sharon lab,Hadassah-Hebrew University Medical Center 4 7 0 0 0 0 11
Institute of Vision Research, Yonsei University College of Medicine 2 6 0 0 0 0 8
GeneDx 3 0 2 0 2 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 5 0 0 0 7
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 3 2 0 0 0 5
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
Human Genetics - Radboudumc,Radboudumc 3 0 1 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 0 2
Ambry Genetics 2 0 0 0 0 0 2
Developmental Genetics Unit,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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 2 0 0 0 0 2
Baylor Genetics 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
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 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

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