Variants studied for PERCHING 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
12	5	5	0	3	23

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
KLHL7	12	5	5	3	23

Submitter and significance breakdown #

Total submitters: 16

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	8	0	0	0	8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	3	1	0	0	4
Mendelics	0	0	0	3	3
Institute of Human Genetics, University of Goettingen	0	2	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	1	0	2
Illumina Laboratory Services, Illumina	0	1	1	0	2
Istanbul Faculty of Medicine, Istanbul University	2	0	0	0	2
Centre for Human Genetics, University of Kinshasa	0	1	1	0	2
Baylor Genetics	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	1	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	1	0	0	1
3billion, Medical Genetics	1	0	0	0	1
Suma Genomics	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	1
Department of Molecular Genetics, Genome Genetics Laboratory	0	0	1	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.