ClinVar Miner

Variants studied for ABCA4-related retinopathy

Included ClinVar conditions (13):
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
286 314 209 15 44 2 1 10 775

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 225 270 97 7 22 2 1 7 533
CNGB3 2 1 77 8 20 0 0 1 109
PRPH2 19 14 13 0 0 0 0 0 46
ABCA4, LOC126805793 14 16 9 0 2 0 0 0 34
ABCA4, LOC126805794 7 4 5 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
ABCB4 0 0 2 0 0 0 0 0 2
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
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: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele other not provided total
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 67 83 27 0 0 0 0 0 177
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
Fulgent Genetics, Fulgent Genetics 25 10 24 0 5 0 0 0 64
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
OMIM 34 0 1 0 0 0 0 0 35
3billion 21 11 2 0 0 0 0 0 34
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 24 9 0 0 0 0 0 0 33
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 5 7 1 0 0 0 0 27
Institute of Human Genetics, University of Leipzig Medical Center 14 6 4 0 0 2 0 0 25
Genome-Nilou Lab 3 0 0 0 17 0 0 0 20
MGZ Medical Genetics Center 9 6 3 0 0 0 0 0 18
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 5 5 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 4 1 0 0 0 0 0 11
Molecular Genetics, Royal Melbourne Hospital 7 3 1 0 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 2 0 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
Neuberg Centre For Genomic Medicine, NCGM 3 1 0 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
Arcensus 0 2 1 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
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
Institute of Human Genetics, University of Goettingen 0 0 1 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
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
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
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
Clinical Genetics Laboratory, Karadeniz Technical University 0 1 0 0 0 0 0 0 1

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