ClinVar Miner

Variants studied for Fuchs' endothelial dystrophy

Included ClinVar conditions (9):
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
29 35 32 5 10 105

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 12 27 13 0 0 51
TCF4 9 4 7 2 3 25
ZEB1 3 3 3 2 1 10
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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 8 26 10 4 0 48
OMIM 13 0 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 12 0 0 13
Mendelics 0 0 3 1 1 5
Genome-Nilou Lab 0 0 0 0 5 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 2 0 0 4
Dr.Nikuei Genetic Center 0 0 0 0 4 4
Reproductive Health Research and Development, BGI Genomics 0 0 2 0 1 3
Molecular Genetics Lab, CHRU Brest 3 0 0 0 0 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
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
3billion 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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