ClinVar Miner

Variants studied for Fuchs' endothelial dystrophy

Included ClinVar conditions (9):
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 total
30 36 33 5 10 108

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC4A11 13 27 13 0 0 52
TCF4 9 4 8 2 3 26
ZEB1 3 4 3 2 1 11
AGBL1 2 0 6 1 3 9
COL8A2 3 0 1 0 2 6
AGBL1, LOC102724452 0 0 1 0 1 2
LOC130003630, ZEB1 0 1 0 0 0 1
LOC130065323, SLC4A11 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 8 26 10 4 0 48
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 12 0 0 13
OMIM 13 0 0 0 0 13
Genome-Nilou Lab 0 0 0 0 5 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 3 0 0 5
Mendelics 0 0 3 1 1 5
Dr.Nikuei Genetic Center 0 0 0 0 4 4
Molecular Genetics Lab, CHRU Brest 3 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 0 2 0 1 3
Baylor Genetics 0 1 1 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
3billion 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1

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