ClinVar Miner

Variants studied for telecanthus

Included ClinVar conditions (12):
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
100 56 37 5 7 13 203

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FOXL2 79 31 17 2 3 10 131
MID1 16 11 11 3 0 3 41
LOC126863207, MID1 4 7 3 0 1 0 14
SPECC1L, SPECC1L-ADORA2A 0 2 4 0 3 0 9
​intergenic 0 2 1 0 0 0 3
COL5A2 0 1 1 0 0 0 2
COL11A1 0 1 0 0 0 0 1
COPB2, MRPS22 1 0 0 0 0 0 1
KAT6B 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 38 8 13 1 2 0 62
Wessex Regional Genetics Laboratory, Salisbury District Hospital 34 15 1 0 0 0 50
GeneReviews 1 0 0 0 1 13 15
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 5 1 0 0 0 13
OMIM 10 0 0 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 6 3 1 0 0 0 10
3billion 2 3 1 1 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 2 0 1 2 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 3 0 0 0 0 4
Illumina Laboratory Services, Illumina 0 2 1 0 0 0 3
Center for Medical Genetics Ghent, University of Ghent 3 0 0 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 2 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Mendelics 1 0 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Laboratory of Genetics, AOUP, Azienda Ospedaliera Universitaria Pisana 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Tehran Medical Genetics Laboratory 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1

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