Variants studied for COG7 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	not provided	total
8	5	206	208	27	2	425

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
COG7	6	4	194	195	27	2	398
COG7, LOC130058658	1	1	11	13	0	0	25
CEP290	1	0	0	0	0	0	1
COG7, EARS2, GGA2, NDUFAB1, PALB2, SCNN1B, SCNN1G, UBFD1	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	2	1	164	202	25	0	394
Illumina Laboratory Services, Illumina	0	0	47	6	4	0	57
Baylor Genetics	0	0	10	0	0	0	10
Fulgent Genetics, Fulgent Genetics	0	0	3	3	1	0	7
Revvity Omics, Revvity	0	0	4	0	0	0	4
OMIM	2	0	0	0	0	0	2
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	1	1	0	0	0	0	2
Suma Genomics	2	0	0	0	0	0	2
Research Laboratories, P. D. Hinduja Hospital & MRC	0	2	0	0	0	0	2
GenomeConnect - Brain Gene Registry	0	0	0	0	0	2	2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	0	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	0	1
3billion	1	0	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	1

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