Variants studied for Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

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	not provided	total
9	6	9	1	2	1	27

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	not provided	total
OTUD6B	9	6	9	1	2	0	26
OTUD4	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 16

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Baylor Genetics	2	0	3	0	0	0	5
OMIM	4	0	0	0	0	0	4
Revvity Omics, Revvity	2	1	1	0	0	0	4
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	1	0	0	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	2	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Neuberg Centre For Genomic Medicine, NCGM	1	0	1	0	0	0	2
School of Medicine, Dokuz Eylül University	1	1	0	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	0	1
3billion	1	0	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1
Cytogenetique et Genetique Moleculaire, CHU Besancon	0	1	0	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.