ClinVar Miner

Variants studied for corneal endothelial dystrophy

Included ClinVar conditions (13):
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
35 2 44 8 29 113

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 total
VSX1 0 0 34 8 27 68
SLC4A11 15 0 3 0 0 18
TCF4 4 1 2 0 0 7
ZEB1 5 1 2 0 1 6
OVOL2 4 0 0 0 0 4
AGBL1 2 0 2 0 0 3
COL8A2 3 0 0 0 0 3
GRHL2 2 0 0 0 1 3
KRT3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 33 8 27 68
OMIM 28 0 1 0 0 29
Mendelics 0 0 3 0 1 4
Reproductive Health Research and Development,BGI Genomics 0 0 2 0 1 3
Baylor Genetics 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
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
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1

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