ClinVar Miner

Variants studied for ALG3-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 total
29 19 85 66 8 186

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 total
ALG3 29 18 82 65 8 182
ALG3, LOC129938049 0 0 2 1 0 2
ABCC5, ABCF3, ALG3, AP2M1, B3GNT5, CAMK2N2, CLCN2, DVL3, ECE2, EIF2B5, EIF4G1, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MAP6D1, MCCC1, MCF2L2, MIR1224, PARL, POLR2H, PSMD2, THPO, VWA5B2, YEATS2 0 0 1 0 0 1
ALG3, EEF1AKMT4, EEF1AKMT4-ECE2, MIR1224, VWA5B2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 7 3 45 63 7 125
Illumina Laboratory Services, Illumina 0 0 32 3 2 37
University of Washington Center for Mendelian Genomics, University of Washington 10 3 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 0 0 0 8
Baylor Genetics 0 0 5 0 0 5
OMIM 5 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 1 0 0 5
3billion 0 1 2 1 0 4
Fulgent Genetics, Fulgent Genetics 1 1 2 0 0 4
Lab Thiel (Congenital Disorders of Glycosylation), Center for Child and Adolescent Medicine 4 0 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 3
Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 1
Medical Molecular Genetics, National Research Centre 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 1

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