Variants studied for Blepharophimosis - intellectual disability syndrome, MKB type

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
5	8	11	0	6	30

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
MED12	5	8	11	6	30

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Genome-Nilou Lab	0	0	0	6	6
OMIM	4	0	0	0	4
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	3	0	3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	3	0	3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	2	0	0	2
3billion	0	2	0	0	2
Baylor Genetics	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	1
Mendelics	0	1	0	0	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	0	1	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	0	1	0	0	1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	1	0	0	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	1	0	0	1

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