ClinVar Miner

Variants studied for retinal vascular disorder

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
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Gene type:
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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 likely risk allele uncertain risk allele not provided total
156 125 1974 2514 262 4 45 16 4913

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
DYNC1H1 36 60 1351 2137 166 0 0 9 3607
ATRIP, ATRIP-TREX1, TREX1 44 12 268 132 18 0 0 0 460
LRP5 27 26 169 93 6 0 0 3 318
DYNC1H1, LOC126862060 1 2 50 82 4 0 0 0 134
FZD4, PRSS23 9 7 69 6 45 0 0 0 133
TGFBR2 1 0 0 48 0 4 43 0 96
TSPAN12 15 8 30 3 14 0 0 0 69
ZNF408 2 3 8 0 0 0 0 1 14
FZD4 2 0 3 3 4 0 0 2 12
DYNC1H1, LOC130056502 0 1 7 3 0 0 0 0 11
CTNNB1 3 1 2 2 0 0 0 0 8
NDP 5 2 1 0 0 0 0 0 8
CTNNB1, LOC126806659 4 0 1 1 0 0 0 0 6
DYNC1H1, LOC125078040 0 0 4 0 2 0 0 0 6
LOC129936399, TGFBR2 0 0 0 3 0 0 2 0 5
FZD4, LOC130006562 0 0 3 0 1 0 0 0 4
IGFBP7 2 0 0 0 1 0 0 0 3
CTNNB1, LOC126806658 1 0 0 1 0 0 0 0 2
LOC130005659, ZNF408 0 0 2 0 0 0 0 0 2
RCBTB1 0 2 0 0 0 0 0 0 2
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 1
AMIGO3, AMT, APEH, ARIH2, ARIH2OS, BSN, C3orf62, CAMKV, CCDC71, CDHR4, CELSR3, CIMIP7, COL7A1, DAG1, DALRD3, GMPPB, GNAI2, GNAT1, GPX1, HYAL1, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KLHDC8B, LAMB2, LSMEM2, MIR191, MON1A, MST1, MST1R, NAA80, NCKIPSD, NDUFAF3, NICN1, P4HTM, PFKFB4, PRKAR2A, QARS1, QRICH1, RBM5, RBM6, RHOA, RNF123, SEMA3B, SEMA3F, SHISA5, SLC25A20, SLC26A6, SLC38A3, TCTA, TMEM89, TRAIP, TREX1, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6 1 0 0 0 0 0 0 0 1
AMN, ANKRD9, CINP, DYNC1H1, HSP90AA1, MOK, RCOR1, TECPR2, TRAF3, WDR20, ZNF839 0 0 1 0 0 0 0 0 1
CCDC81, CCDC83, CCDC89, CREBZF, DLG2, EED, FZD4, HIKESHI, ME3, PICALM, PRSS23, SYTL2, TMEM126A, TMEM126B, TMEM135 1 0 0 0 0 0 0 0 1
DYNC1H1, LOC130056499, LOC130056500, PPP2R5C 0 0 1 0 0 0 0 0 1
DYNC1H1, PPP2R5C 0 0 1 0 0 0 0 0 1
FZD4, LOC130006561 0 0 0 0 1 0 0 0 1
HIVEP2 0 0 1 0 0 0 0 0 1
KIF11 0 0 0 0 0 0 0 1 1
PCDH12, RNF14 0 1 0 0 0 0 0 0 1
RHO 1 0 0 0 0 0 0 0 1
VHL 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 99
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 70 17 1459 2303 172 0 0 0 4021
Illumina Laboratory Services, Illumina 0 0 194 64 117 0 0 0 375
Fulgent Genetics, Fulgent Genetics 6 9 172 110 4 0 0 0 301
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 1 0 0 51 0 4 45 0 101
OMIM 51 0 1 0 0 0 0 0 52
3billion 4 11 16 0 0 0 0 0 31
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 31 0 0 0 0 0 31
Institute of Human Genetics, University of Leipzig Medical Center 5 5 17 2 0 0 0 0 29
Baylor Genetics 5 2 15 0 0 0 0 0 22
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 11 1 1 0 0 0 18
New York Genome Center 0 1 16 0 0 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 14 1 0 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 0 3 12 0 0 0 0 0 15
Genome-Nilou Lab 0 0 0 0 14 0 0 0 14
Mendelics 2 4 3 2 2 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 7 3 0 0 0 0 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 7 0 0 0 0 0 8
Hyderabad Eye Research Foundation, L V Prasad Eye Institute 0 0 7 0 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 6 0 0 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 7 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 0 0 5
MGZ Medical Genetics Center 0 0 4 1 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 0 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 5 0 0 0 0 5
Laboratory of Human Molecular Genetics, Department of Medical Research, Taipei Veterans General Hospital 2 2 1 0 0 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 4 0 0 0 0 0 5
Genomics England Pilot Project, Genomics England 0 5 0 0 0 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 5 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 0 1 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 1 1 0 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 0 3 0 0 0 0 0 4
Sharon lab, Hadassah-Hebrew University Medical Center 1 3 0 0 0 0 0 0 4
Department of Ophthalmology, California Pacific Medical Center 1 3 0 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 3 0 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 0 0 3
Revvity Omics, Revvity 2 0 1 0 0 0 0 0 3
Leeds Vision Research Group, University of Leeds 3 0 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 1 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 2 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 1 0 0 0 0 3
DBGen Ocular Genomics 2 1 0 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 1 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 0 0 2
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 2 0 0 0 0 0 0 2
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 0 0 2
Institute of Neurology, Charite University of Medicine 0 1 0 1 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 0 1
Erez Levanon lab, Bar Ilan University 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 0 0 1
Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 0 0 1
Suma Genomics, Suma Genomics 0 0 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 0 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 0 0 0 1

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