ClinVar Miner

Variants studied for coloboma

Included ClinVar conditions (40):
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 total
50 24 261 150 42 519

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GDF6 1 0 158 133 24 314
VSX2 1 1 67 10 6 83
TENM3 7 3 10 0 5 23
PAX6 12 2 3 1 0 18
ABCB6 2 1 3 3 3 11
FZD5 7 2 0 0 0 8
SHH 1 1 2 2 1 7
RBP4 3 2 0 0 1 6
ELP4, PAX6 2 0 1 0 2 5
CYP1B1 0 0 4 0 0 4
GDF3 2 0 1 1 0 4
TMEM67 1 3 0 0 0 4
WDR37 0 4 0 0 0 4
PRR12 3 0 0 0 0 3
SALL2 1 0 2 0 0 3
BFSP1 0 0 2 0 0 2
CILK1 0 0 2 0 0 2
​intergenic 0 0 1 0 0 1
BAG3, CACUL1, CASC2, DENND10, EIF3A, EMX2, EMX2OS, FAM204A, GRK5, INPP5F, KCNK18, MCMBP, NANOS1, PDZD8, PLPP4, PRDX3, PRLHR, RAB11FIP2, RGS10, SEC23IP, SFXN4, SLC18A2, TIAL1, VAX1 0 0 1 0 0 1
C12orf57 0 1 0 0 0 1
CAPN15 0 1 0 0 0 1
CDK5RAP2 0 0 1 0 0 1
CDON 0 1 0 0 0 1
CFAP418, GDF6, MTERF3, NDUFAF6, PLEKHF2, PTDSS1, UQCRB 0 0 1 0 0 1
CHD7 1 0 0 0 0 1
DHX37 0 1 0 0 0 1
FIBP 0 1 0 0 0 1
GLI2 0 0 1 0 0 1
MYH10 1 0 0 0 0 1
PAX2 1 0 0 0 0 1
RARB 1 0 0 0 0 1
SLC16A12 0 0 1 0 0 1
STRA6 1 0 0 0 0 1
TFAP2A 1 0 0 0 0 1
YAP1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 159 132 24 315
Illumina Laboratory Services, Illumina 0 0 63 9 5 77
OMIM 34 0 0 0 0 34
Fulgent Genetics, Fulgent Genetics 2 1 3 7 0 13
Genome-Nilou Lab 0 0 0 0 10 10
Eye Genetics Research Group, Children's Medical Research Institute 0 0 9 0 0 9
Genetics Department, University Hospital of Toulouse 4 5 0 0 0 9
Baylor Genetics 3 1 4 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 1 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 2 4
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 4 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 1 0 0 3
Dr.Nikuei Genetic Center 0 0 0 1 2 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 0 0 2 0 0 2
Counsyl 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 1 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Fundació de Recerca de l'Institut de Microcirurgia Ocular 1 0 0 0 0 1
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 0 0 1 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 1 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 1
Pars Genome Lab 0 0 0 0 1 1
3billion 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1

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