ClinVar Miner

Variants studied for Fuchs' endothelial dystrophy

Included ClinVar conditions (8):
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
22 8 15 5 6 52

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TCF4 8 2 4 2 3 19
SLC4A11 6 3 5 0 0 14
ZEB1 3 3 1 2 1 8
COL8A2 3 0 0 0 2 5
AGBL1 2 0 3 1 0 4
AGBL1, LOC102724452 0 0 1 0 0 1
LOC130065323, SLC4A11 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 2 3 6 4 0 15
OMIM 13 0 0 0 0 13
Mendelics 1 0 3 0 1 5
Genome-Nilou Lab 0 0 0 0 5 5
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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 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
3billion 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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