ClinVar Miner

Variants in gene combination GPHN, RDH12

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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
68 65 144 175 21 2 415

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Leber congenital amaurosis 13 65 49 101 169 5 2 364
Leber congenital amaurosis 19 9 29 8 2 0 65
not provided 14 6 11 8 16 0 52
Retinal dystrophy 11 13 17 0 3 0 42
Retinitis pigmentosa 5 6 8 1 3 0 23
Retinitis Pigmentosa, Recessive 0 0 9 3 0 0 12
not specified 0 0 11 1 0 0 12
Inborn genetic diseases 0 0 10 0 0 0 10
RDH12-related disorder 1 1 4 3 0 0 9
Macular dystrophy 1 3 0 0 0 0 4
Cone-rod dystrophy 2 1 0 0 0 0 3
Optic atrophy 0 0 1 0 0 0 1
Retinitis pigmentosa 53 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 1
Stargardt disease 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 57 10 95 170 3 0 335
Natera, Inc. 12 4 28 8 2 0 54
Baylor Genetics 30 17 1 0 0 0 48
GeneDx 7 4 4 0 16 0 31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 4 11 1 0 0 28
Fulgent Genetics, Fulgent Genetics 11 7 1 0 0 0 19
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 7 3 9 0 0 0 19
Laboratory of Genetics in Ophthalmology, Institut Imagine 15 3 0 0 0 0 18
CeGaT Center for Human Genetics Tuebingen 8 1 5 3 0 0 17
Blueprint Genetics 6 5 4 0 0 0 15
Illumina Laboratory Services, Illumina 0 0 12 3 3 0 15
Ocular Genomics Institute, Massachusetts Eye and Ear 4 9 1 0 0 0 14
OMIM 12 0 0 0 0 0 12
Ambry Genetics 0 0 10 0 0 0 10
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 7 0 10
PreventionGenetics, part of Exact Sciences 1 1 4 3 0 0 9
Dept Of Ophthalmology, Nagoya University 0 2 4 0 3 0 9
Mendelics 5 3 0 0 0 0 8
Eurofins Ntd Llc (ga) 2 1 4 0 0 0 7
Sharon lab, Hadassah-Hebrew University Medical Center 5 1 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 2 0 0 0 6
Genome-Nilou Lab 1 0 2 0 3 0 6
3billion 3 2 1 0 0 0 6
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 3 2 1 0 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 3 0 0 0 0 4
DBGen Ocular Genomics 1 3 1 0 0 0 4
Revvity Omics, Revvity 1 2 0 0 0 0 3
MGZ Medical Genetics Center 1 1 1 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 1 0 0 3
Clinical Genetics, Academic Medical Center 1 0 0 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 2 0 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Medical Genetics, Meyer Children Hospital 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Cytogenetics and Genomics Laboratory, Medical University of South Carolina 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1

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