Variants studied for ALG8-congenital disorder of glycosylation

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
21	13	91	56	19	179

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	benign	total
ALG8	21	13	91	55	18	177
ALG8, LOC130006492	0	0	0	1	1	2

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	10	4	63	51	14	142
Illumina Laboratory Services, Illumina	0	0	28	2	4	34
Fulgent Genetics, Fulgent Genetics	3	8	13	8	0	32
OMIM	8	0	0	0	0	8
Baylor Genetics	1	1	5	0	0	7
Genome-Nilou Lab	0	0	0	0	6	6
MGZ Medical Genetics Center	0	0	2	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	1	1	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	2
Hadassah Hebrew University Medical Center	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
SIB Swiss Institute of Bioinformatics	0	0	0	0	1	1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences	1	0	0	0	0	1
Istanbul Faculty of Medicine, Istanbul University	1	0	0	0	0	1
Medical Genetics, Christian Medical College	0	1	0	0	0	1

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