Variants studied for Renal hypomagnesemia 5 with ocular involvement

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
9	15	82	5	13	122

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	total
CLDN19	9	14	82	5	13	121
CLDN16	0	1	0	0	0	1

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	50	1	13	64
Fulgent Genetics, Fulgent Genetics	1	5	36	3	0	45
OMIM	5	0	0	0	0	5
3billion	2	2	0	0	0	4
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria	2	1	0	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	1	1	1	0	0	3
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	1	0	2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	2	0	0	0	2
Molecular Biology Laboratory, Fundació Puigvert	0	2	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	1	0	0	0	1
Molecular Genetics Laboratory, Biobizkaia Health Research Institute	1	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	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.