ClinVar Miner

Variants studied for corneal endothelial dystrophy

Included ClinVar conditions (16):
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
49 16 62 15 65 198

Gene and significance breakdown #

Total genes and gene combinations: 12
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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 22 7 12 1 23 61
TCF4 8 2 4 2 3 19
ZEB1 7 6 1 2 1 15
GRHL2 2 0 4 1 3 10
AGBL1 2 0 3 1 3 7
OVOL2 4 0 1 0 2 7
COL8A2 3 0 0 0 2 5
AGBL1, LOC102724452 0 0 1 0 1 2
LOC130003630, ZEB1 1 1 0 0 0 2
KRT3 0 0 1 0 0 1
LOC130065323, SLC4A11 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 33 8 27 68
Genome-Nilou Lab 0 0 0 1 33 34
OMIM 31 0 1 0 0 32
Fulgent Genetics, Fulgent Genetics 2 3 8 5 0 18
Mendelics 1 0 4 0 2 7
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute 2 1 2 0 0 5
Genetics and Molecular Pathology, SA Pathology 0 3 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 4
Dr.Nikuei Genetic Center 0 0 0 0 4 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 0 2 0 1 3
Molecular Genetics Lab, CHRU Brest 3 0 0 0 0 3
3billion 0 1 2 0 0 3
Baylor Genetics 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 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
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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1

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