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
277 177 1188 302 158 3 2049

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FKTN 24 23 215 50 25 0 314
FKRP 28 11 133 48 11 0 229
POMT1 26 10 101 30 27 0 191
POMT2 21 3 122 22 15 2 182
DAG1 7 1 116 29 10 0 162
POMGNT2 6 2 101 29 11 0 149
CRPPA 26 7 62 16 13 0 124
LARGE1 5 1 73 9 21 0 109
POMGNT1, TSPAN1 7 71 24 3 1 0 99
B3GALNT2 14 10 59 18 4 0 97
GMPPB 13 6 57 15 4 0 94
POMK 9 0 42 17 7 0 73
B4GAT1 2 1 32 7 5 0 46
RXYLT1 8 5 19 5 2 0 36
CTC1 14 3 10 2 0 0 29
LRP5 19 6 2 1 1 1 28
NDP 17 2 1 0 0 0 20
IKBKG 14 0 0 0 0 0 14
B3GALNT2, TBCE 1 1 10 0 0 0 12
POMGNT1 1 8 2 1 0 0 12
XYLT2 2 3 0 0 1 0 6
ATOH7 4 0 0 0 0 0 4
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
STN1 2 0 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
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: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 119 40 965 268 115 0 1507
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
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
Baylor Genetics 6 1 3 1 0 0 11
Athena Diagnostics Inc 0 0 0 0 10 0 10
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 of Human Molecular Genetics, Department of Medical Research,Taipei Veterans General Hospital 2 2 1 0 0 0 5
Genetic Services Laboratory,University of Chicago 4 0 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 1 0 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
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 2 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
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
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
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 1

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