ClinVar Miner

Variants studied for ALG11-congenital disorder of glycosylation

Included ClinVar conditions (1):
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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
11 5 64 23 11 111

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALG11, UTP14C 3 3 29 8 6 47
ALG11 6 0 28 9 3 46
ALG11, LOC130009841 1 2 5 5 1 13
ALG11, ATP7B 0 0 0 0 1 1
ALG11, ATP7B, LOC124900147, LOC130009838, LOC130009839, LOC130009840, LOC130009841, LOC130009842, UTP14C 0 0 1 0 0 1
ALG11, ATP7B, LOC130009841 0 0 1 0 0 1
ALG11, ATP7B, UTP14C 1 0 0 0 0 1
ALG11, LOC130009842 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 0 30 21 7 60
Illumina Laboratory Services, Illumina 0 0 34 1 7 42
OMIM 9 0 0 0 0 9
Baylor Genetics 0 1 2 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
3billion 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1

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