ClinVar Miner

Variants studied for Blepharophimosis, ptosis, and epicanthus inversus

Coded as:
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
76 23 15 1 3 115

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FOXL2 75 23 15 1 3 114
COPB2, MRPS22 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 38 8 13 1 2 62
Wessex Regional Genetics Laboratory,Salisbury District Hospital 34 15 1 0 0 50
GeneReviews 11 0 0 0 1 12
Center for Medical Genetics Ghent,University of Ghent 3 0 0 0 0 3
Mendelics 1 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
OMIM 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Tehran Medical Genetics Laboratory 1 0 0 0 0 1

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