ClinVar Miner

Variants studied for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
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
218 157 717 56 31 4 1152

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FKTN 13 23 141 7 6 0 182
FKRP 22 6 81 4 5 0 116
POMT2 17 3 78 3 1 3 103
POMT1 20 6 63 4 8 0 101
POMGNT1, TSPAN1 7 70 23 3 1 0 99
DAG1 4 1 71 4 0 0 80
LARGE1 5 1 49 16 2 0 73
POMGNT2 5 2 61 2 2 0 72
CRPPA 24 6 34 3 4 0 71
B3GALNT2 12 9 31 4 0 0 50
RXYLT1 9 5 22 1 0 0 34
CTC1 14 4 7 2 0 0 26
LRP5 19 4 2 1 1 1 26
POMK 7 0 19 1 0 0 26
B4GAT1 2 1 23 0 0 0 25
NDP 17 2 1 0 0 0 20
POMGNT1 0 8 2 1 0 0 11
B3GALNT2, TBCE 1 1 7 0 0 0 9
IKBKG 6 0 0 0 0 0 6
XYLT2 2 2 0 0 1 0 5
ATOH7 4 0 0 0 0 0 4
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
ANKMY2, BZW2, CRPPA, LRRC72, SOSTDC1 1 0 0 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: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 71 25 553 26 15 0 690
Illumina Clinical Services Laboratory,Illumina 1 1 102 21 2 0 127
OMIM 125 0 1 0 0 0 126
Counsyl 6 70 30 3 0 0 109
Fulgent Genetics,Fulgent Genetics 5 5 40 0 0 0 50
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 5 1 0 0 0 8
Integrated Genetics/Laboratory Corporation of America 3 2 0 0 0 1 6
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 3 1 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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 2 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
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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 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
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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