ClinVar Miner

Variants studied for chorioretinitis

Included ClinVar conditions (3):
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
18 23 45 10 13 2 106

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TUBGCP6 8 16 38 7 9 2 77
PLK4 2 3 5 2 2 0 14
TUBGCP4 6 3 2 0 2 0 12
TP53BP1, TUBGCP4 1 1 0 1 0 0 2
KIF11 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 0 0 11 7 0 0 18
Baylor Genetics 2 1 13 0 0 0 16
OMIM 12 0 0 0 0 0 12
Revvity Omics, Revvity 0 2 9 0 0 0 11
Genome-Nilou Lab 0 0 0 0 10 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 5 0 0 0 7
Service de Génétique Moléculaire, Hôpital Robert Debré 1 4 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Mendelics 2 0 0 0 1 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 3 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 1 1 0 0 0 0 2
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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