Variants studied for Neurodegeneration with brain iron accumulation 2B

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
17	14	5	0	0	33

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
PLA2G6	17	14	5	33

Submitter and significance breakdown #

Total submitters: 18

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	total
Neuberg Centre For Genomic Medicine, NCGM	2	3	3	8
Genetic Services Laboratory, University of Chicago	1	3	0	4
OMIM	3	0	0	3
Solve-RD Consortium	0	3	0	3
Baylor Genetics	2	0	0	2
Centogene AG - the Rare Disease Company	1	1	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	2	0	0	2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	2	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	0	1	1	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	1
Suma Genomics	1	0	0	1
Molecular Genetics, University Hospital Bordeaux	1	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	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.