ClinVar Miner

Variants studied for COG8-congenital disorder of glycosylation

Included ClinVar conditions (1):
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 total
6 3 83 43 14 135

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COG8 4 2 64 32 10 102
COG8, LOC130059304 2 1 11 6 2 19
COG8, PDF 0 0 6 0 2 8
COG8, LOC130059305 0 0 1 2 0 3
COG8, LOC130059306 0 0 1 3 0 3

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 1 45 39 11 97
Illumina Laboratory Services, Illumina 0 0 32 3 6 41
OMIM 4 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 4
Baylor Genetics 0 0 3 0 0 3
Revvity Omics, Revvity 0 1 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1

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