Variants studied for Cornelia de Lange syndrome 6

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)

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
6	10	4	2	0	20

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	total
BRD4	6	10	3	2	19
AFF4	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 14

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
OMIM	4	0	0	0	4
3billion	0	2	1	0	3
Centre for Medical Genetics, Mumbai	0	0	0	2	2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	2	0	0	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	1	0	2
Clinical Genetics and Genomics, Karolinska University Hospital	0	1	0	0	1
Department of Human Genetics, Hannover Medical School	1	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	1
Medical Genetics and Prenatal Diagnosis Center, Guangxi Academy of Medical Sciences and the People’s Hospital of Guangxi Zhuang Autonomous Region	1	0	0	0	1
Medical and Scientific Branch, Hong Kong Genome Institute	0	1	0	0	1
New York Genome Center	0	1	0	0	1
SIB Swiss Institute of Bioinformatics	0	1	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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.