ClinVar Miner

Variants studied for congenital vitreoretinal dysplasia

Included ClinVar conditions (44):
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
324 192 1549 531 164 3 2697

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FKTN 33 25 243 77 24 0 380
FKRP 41 12 190 86 11 0 337
POMT1 31 14 136 51 28 0 256
POMT2 24 7 154 52 15 2 250
DAG1 8 1 155 44 10 0 217
POMGNT2 8 2 136 57 11 0 214
CRPPA 30 8 84 25 13 0 159
POMGNT1, TSPAN1 10 72 51 12 7 0 140
B3GALNT2 16 11 83 29 4 0 135
GMPPB 15 8 67 30 4 0 123
LARGE1 5 1 77 9 21 0 113
POMK 11 0 59 28 7 0 101
B4GAT1 2 1 41 21 5 0 69
CTC1 14 3 17 3 0 0 37
LRP5 19 6 5 1 1 1 31
RXYLT1 8 4 18 2 2 0 31
POMGNT1 1 8 11 1 0 0 21
NDP 17 2 1 0 0 0 20
B3GALNT2, TBCE 1 1 11 3 0 0 16
IKBKG 15 0 0 0 0 0 15
XYLT2 2 3 1 0 1 0 7
ATOH7 4 0 0 0 0 0 4
STN1 2 0 1 0 0 0 3
CELSR1 0 0 2 0 0 0 2
FZD4, PRSS23 2 0 0 0 0 0 2
RCBTB1 0 2 0 0 0 0 2
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 1
AMT, C3orf62, C3orf84, CCDC71, DAG1, GPX1, IHO1, KLHDC8B, LAMB2, NICN1, RHOA, TCTA, USP4 1 0 0 0 0 0 1
ANKMY2, BZW2, CRPPA, LRRC72, SOSTDC1 1 0 0 0 0 0 1
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4 0 0 1 0 0 0 1
CTC1, PFAS 0 0 1 0 0 0 1
FKRP, STRN4 0 0 1 0 0 0 1
FKTN, FSD1L 1 0 0 0 0 0 1
FNTA, HOOK3, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 1
G6PD, IKBKG 0 0 1 0 0 0 1
PCDH12 0 1 0 0 0 0 1
RHO 1 0 0 0 0 0 1
TSPAN12 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 158 52 1261 487 115 0 2073
Illumina Clinical Services Laboratory,Illumina 1 1 157 25 36 0 220
OMIM 134 0 1 0 0 0 135
Counsyl 5 70 30 3 0 0 108
Baylor Genetics 11 3 43 1 0 0 58
Natera, Inc. 5 1 34 9 6 0 55
Fulgent Genetics,Fulgent Genetics 7 5 40 0 0 0 52
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 36 0 0 0 0 37
Mendelics 1 4 4 4 4 0 17
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 3 1 1 0 10
Athena Diagnostics Inc 0 0 0 0 9 0 9
Integrated Genetics/Laboratory Corporation of America 6 2 0 0 0 1 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 5 1 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 3 0 0 0 0 5
Laboratory of Human Molecular Genetics, Department of Medical Research,Taipei Veterans General Hospital 2 2 1 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 2 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 1 0 0 0 3
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 1 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 0 3 0 0 0 3
Godley laboratory, The University of Chicago 0 0 3 0 0 0 3
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 0 2
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 1 0 0 0 0 2
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 2 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 0 1
Erez Levanon lab,Bar Ilan University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1

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