ClinVar Miner

Variants studied for ABCA4-related retinopathy

Included ClinVar conditions (14):
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 established risk allele other not provided total
373 388 226 15 47 2 1 10 910

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele other not provided total
ABCA4 306 341 113 7 25 2 1 7 661
CNGB3 2 1 77 8 20 0 0 1 109
PRPH2 19 14 13 0 0 0 0 0 46
ABCA4, LOC126805793 21 20 10 0 2 0 0 0 42
ABCA4, LOC126805794 6 3 6 0 0 0 0 0 15
PROM1 7 0 0 0 0 0 0 1 8
BEST1 2 2 1 0 0 0 0 0 5
CRX 1 2 0 0 0 0 0 0 3
CRB1 1 0 1 0 0 0 0 0 2
LRIT3 2 0 0 0 0 0 0 0 2
USH2A 0 0 2 0 0 0 0 0 2
ABCA4, LOC112590828, LOC126805793, LOC126805794 0 1 0 0 0 0 0 0 1
ABCB4 0 0 1 0 0 0 0 0 1
CERKL 1 0 0 0 0 0 0 0 1
COL2A1 1 0 0 0 0 0 0 0 1
EYS 0 1 0 0 0 0 0 0 1
FLVCR1 0 1 0 0 0 0 0 0 1
GPHN, RDH12 0 1 0 0 0 0 0 0 1
KCNV2 1 0 0 0 0 0 0 0 1
MFSD8 0 1 0 0 0 0 0 0 1
OPA1 1 0 0 0 0 0 0 0 1
PCARE 1 0 0 0 0 0 0 0 1
RHO 0 0 1 0 0 0 0 0 1
RP1L1 0 0 0 0 0 0 0 1 1
SNRNP200 0 0 1 0 0 0 0 0 1
TULP1 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 93
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele other not provided total
Fulgent Genetics, Fulgent Genetics 75 60 25 0 5 0 0 0 165
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 57 56 15 0 0 0 0 0 128
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 77 25 2 0 2 0 0 0 106
Illumina Laboratory Services, Illumina 0 0 75 8 20 0 0 0 103
Institute of Medical Molecular Genetics, University of Zurich 0 84 0 0 0 0 0 0 84
3billion 41 19 6 0 0 0 0 0 66
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 15 29 7 0 0 0 0 0 51
Mendelics 29 6 8 4 2 0 0 0 49
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 18 14 13 0 0 0 0 0 45
NIHR Bioresource Rare Diseases, University of Cambridge 7 35 0 2 0 0 0 0 44
Sharon lab, Hadassah-Hebrew University Medical Center 29 14 0 0 0 0 0 0 43
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 24 6 9 1 0 0 0 0 40
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 26 11 0 0 0 0 0 0 37
Department of Pathology and Laboratory Medicine, Sinai Health System 5 6 25 0 1 0 0 0 37
OMIM 34 0 1 0 0 0 0 0 35
Institute of Human Genetics, University of Leipzig Medical Center 19 7 5 0 0 2 0 0 32
SingHealth Duke-NUS Institute of Precision Medicine 5 27 0 0 0 0 0 0 32
Ocular Genomics Institute, Massachusetts Eye and Ear 16 8 7 0 0 0 0 0 31
DBGen Ocular Genomics 10 10 9 0 0 0 0 0 29
Juno Genomics, Hangzhou Juno Genomics, Inc 13 6 3 0 0 0 0 0 22
Genome-Nilou Lab 3 0 0 0 17 0 0 0 20
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 6 2 0 0 0 0 0 19
MGZ Medical Genetics Center 9 6 3 0 0 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 7 3 0 0 0 0 0 15
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 6 8 1 0 0 0 0 0 15
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 5 3 1 0 0 0 0 15
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 11 4 0 0 0 0 0 0 15
Genomics England Pilot Project, Genomics England 6 9 0 0 0 0 0 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 6 1 0 0 0 0 0 14
Molecular Genetics Laboratory, Institute for Ophthalmic Research 13 0 0 0 0 0 0 0 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 5 3 0 0 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 6 2 3 0 0 0 0 0 11
Molecular Genetics, Royal Melbourne Hospital 7 3 1 0 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 7 2 1 0 0 0 0 0 10
Department of Ophthalmology and Visual Sciences Kyoto University 7 0 0 0 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 0 7 7
Baylor Genetics 3 2 1 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 1 0 0 0 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 4 0 0 0 0 0 0 5
Wuhan Primbio Medical Laboratory 2 2 1 0 0 0 0 0 5
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 2 1 0 0 0 0 0 4
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 2 0 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 3 0 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 0 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
Department of Human Genetics, Hannover Medical School 1 1 1 0 0 0 0 0 3
Arcensus 0 2 1 0 0 0 0 0 3
Department of Genetics, Suzhou Beikang Medical Laboratory 0 3 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 0 0 2
Rui Chen Lab, Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 0 1 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 0 0 2
Moosajee Lab, UCL Institute of Ophthalmology 0 1 1 0 0 0 0 0 2
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 1 0 1 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 0 0 2
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 0 1 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 1 0 0 0 0 0 0 1
Servicio Extremeño de Salud, Hospital de Mérida 1 0 0 0 0 0 0 0 1
Human Molecular Genetics Laboratory, Federal University of Parana 0 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 0 0 1
The Cell Therapy Center, The University of Jordan 1 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1
Biswas-Fiss Lab at the Ammon Pinizzotto Biopharmaceutical Innovation Center, University of Delaware 0 1 0 0 0 0 0 0 1
Pangenia Genomics, Pangenia Inc. 1 0 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Karadeniz Technical University 0 1 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 0 0 1

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