ClinVar Miner

Variants studied for COG1-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
18 5 207 178 22 1 406

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COG1 12 5 142 119 16 1 275
COG1, LOC126862634 5 0 18 23 1 0 46
COG1, LOC130061576 1 0 13 18 2 0 32
COG1, VCF1 0 0 19 9 1 0 28
COG1, LOC125316790 0 0 7 4 2 0 13
COG1, LOC130061577 0 0 8 5 0 0 12

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 17 1 164 171 20 0 373
Illumina Laboratory Services, Illumina 0 0 49 6 6 0 61
Baylor Genetics 0 0 7 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
3billion 0 0 1 2 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 0 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
OMIM 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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