Variants studied for Congenital disorder of deglycosylation 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
8	11	9	1	0	26

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
NGLY1	8	10	9	1	25
LOC129936379, NGLY1	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Revvity Omics, Revvity	1	1	3	0	5
Fulgent Genetics, Fulgent Genetics	1	0	3	1	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	2	0	0	3
3billion	1	1	1	0	3
Baylor Genetics	2	0	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	2
Undiagnosed Diseases Network, NIH	0	1	1	0	2
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University	0	2	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	1
Research Laboratories, P. D. Hinduja Hospital & MRC	0	1	0	0	1
Solve-RD Consortium	0	1	0	0	1

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