Variants studied for Intellectual disability-strabismus syndrome

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
2	5	21	0	1	28

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
ADAT3, SCAMP4	2	5	21	1	28

Submitter and significance breakdown #

Total submitters: 23

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Baylor Genetics	1	0	6	0	7
Revvity Omics, Revvity	1	0	3	0	4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	2	2	0	4
MGZ Medical Genetics Center	0	0	3	0	3
Centogene AG - the Rare Disease Company	1	0	2	0	3
OMIM	2	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	1	1	0	2
Daryl Scott Lab, Baylor College of Medicine	1	1	0	0	2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	2	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	1
Medical Molecular Genetics Department, National Research Center	0	1	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	1	0	0	0	1
Department of Biochemistry, Faculty of Medicine, University of Khartoum	1	0	0	0	1
Section for Clinical Neurogenetics, University of Tübingen	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	1
Breakthrough Genomics, Breakthrough Genomics	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.