Variants studied for Glycine encephalopathy 1

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
39	63	19	2	0	117

Gene and significance breakdown #

Total genes and gene combinations: 4

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
GLDC	27	48	18	2	90
AMT	8	14	1	0	23
AMT, NICN1	3	1	0	0	3
DNAH5	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 18

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Fulgent Genetics, Fulgent Genetics	15	40	1	0	56
Baylor Genetics	10	13	0	0	23
OMIM	10	0	0	0	10
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	9	1	10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	2	4	0	7
Neuberg Centre For Genomic Medicine, NCGM	0	4	3	0	7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	2	0	0	4
Daryl Scott Lab, Baylor College of Medicine	2	0	1	0	3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	2	0	0	3
3billion	1	0	0	1	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	1
Mendelics	0	1	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	1	0	0	0	1
NYU Undiagnosed Diseases Program, NYU School of Medicine	0	1	0	0	1
New York Genome Center	0	0	1	0	1
Stanford Starfish Project, Stanford University	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.