ClinVar Miner

Variants studied for Greig cephalopolysyndactyly syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
95 25 414 405 203 1 1035

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
GLI3 92 25 413 405 203 1 1031
CDK13, GLI3, INHBA, MPLKIP, RALA, SUGCT 1 0 0 0 0 0 1
GLI3, INHBA 1 0 0 0 0 0 1
GLI3, LOC110120590, LOC110121030, LOC110121152 1 0 0 0 0 0 1
GLI3, LOC110121152 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 69 10 161 361 146 0 747
Fulgent Genetics, Fulgent Genetics 2 0 186 48 7 0 243
Illumina Laboratory Services, Illumina 0 0 76 23 91 0 190
OMIM 9 0 0 0 0 0 9
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 6 0 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 1 0 0 0 5
Mendelics 0 1 0 3 1 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 2 0 0 0 5
New York Genome Center 0 0 4 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 4 0 0 4
Ali Lab, Centre for Genetic Disorders, Banaras Hindu University 3 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 2 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
3billion 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
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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