ClinVar Miner

Variants studied for ALG1-congenital disorder of glycosylation

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
70 47 221 400 39 1 748

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
ALG1 62 39 169 325 32 1 602
ALG1, EEF2KMT 3 3 26 27 4 0 62
ALG1, LOC130058384 4 4 14 29 2 0 51
ALG1, LOC130058383 1 1 12 19 1 0 33

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 29 209 392 30 0 718
Fulgent Genetics, Fulgent Genetics 6 5 39 34 4 0 88
Genome-Nilou Lab 0 0 0 0 10 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 6 0 0 0 0 9
OMIM 7 0 0 0 0 0 7
Revvity Omics, Revvity 3 1 3 0 0 0 7
Baylor Genetics 0 0 4 0 0 0 4
Mendelics 0 2 1 0 1 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Undiagnosed Diseases Network, NIH 0 3 0 0 0 0 3
New York Genome Center 0 1 2 0 0 0 3
3billion 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 1 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 0 0 2
Illumina Laboratory Services, Illumina 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 1 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Research Laboratories, P. D. Hinduja Hospital & MRC 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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