ClinVar Miner

Variants studied for COG6-ongenital disorder of glycosylation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
15 4 109 55 24 1 192

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COG6 15 4 109 55 24 1 192

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 1 46 48 19 0 117
Illumina Laboratory Services, Illumina 0 0 59 6 8 0 73
Baylor Genetics 1 0 6 0 0 0 7
Fulgent Genetics, Fulgent Genetics 1 0 1 4 0 0 6
OMIM 5 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 3 0 3
Mendelics 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 1 0 0 0 0 2
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center 2 0 0 0 0 0 2
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1

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