Variants studied for Jalili 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
16	5	65	10	11	105

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CNNM4	16	5	65	10	11	105

Submitter and significance breakdown #

Total submitters: 14

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	64	10	11	85
OMIM	7	0	0	0	0	7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	1	1	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	2	0	0	0	2
Sharon lab, Hadassah-Hebrew University Medical Center	1	1	0	0	0	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	1
Institute of Human Genetics, University of Ulm	1	0	0	0	0	1
Mendelics	1	0	0	0	0	1
Department of Medical Genetics, National Institute of Health	1	0	0	0	0	1
Piracicaba Dental School, University of Campinas	1	0	0	0	0	1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain)	0	1	0	0	0	1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University	1	0	0	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	1	0	0	0	0	1
3billion	0	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. 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.