Variants studied for epithelial-stromal TGFBI dystrophy

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
13	6	4	0	0	23

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
TGFBI	13	6	2	21
TBCD	0	0	2	2

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	13	0	0	13
Genetics and Molecular Pathology, SA Pathology	5	2	0	7
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	2
Juno Genomics, Hangzhou Juno Genomics, Inc	2	0	0	2
3billion	1	1	0	2
Neuberg Centre For Genomic Medicine, NCGM	2	0	0	2
MGZ Medical Genetics Center	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	1
Department of Medical Genetics, National Institute of Health	0	1	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	1
New York Genome Center	1	0	0	1
Refractive Surgery Department, Bright Eye Hospital	0	1	0	1

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