Variants studied for congenital hereditary endothelial dystrophy of cornea

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
18	8	12	1	23	58

Gene and significance breakdown #

Total genes and gene combinations: 2

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SLC4A11	18	8	11	1	23	57
KRT3	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 14

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	0	1	23	24
Fulgent Genetics, Fulgent Genetics	2	3	5	0	0	10
OMIM	8	0	0	0	0	8
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute	2	1	2	0	0	5
Neuberg Centre For Genomic Medicine, NCGM	1	1	1	0	0	3
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	0	0	0	2
3billion	0	0	2	0	0	2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	0	1	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.