Variants studied for sialidosis type 2

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
19	6	32	3	5	63

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
NEU1	18	6	32	3	5	62
NEU1, SLC44A4	1	0	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	1	27	2	5	35
OMIM	12	0	0	0	0	12
Revvity Omics, Revvity	0	2	1	0	0	3
Fulgent Genetics, Fulgent Genetics	0	1	1	1	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	0	2
Genomic Medicine Lab, University of Southampton	2	0	0	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	1	0	0	0	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	0	0	0	1
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	0	0	1
3billion	0	0	1	0	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	0	1
Palindrome, Gene Kavoshgaran Aria	1	0	0	0	0	1
Centre de Recherche et de Formation en Génétique Médicale et en Neurosciences, Université des Sciences, des Techniques et des Technologies de Bamako	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.