ClinVar Miner

Variants studied for ALG3-congenital disorder of glycosylation

Included ClinVar conditions (1):
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 total
27 14 80 58 8 168

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 27 13 77 57 8 164
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 3 42 55 7 113
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
OMIM 5 0 0 0 0 5
Baylor Genetics 0 0 5 0 0 5
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital 1 1 0 0 0 2
3billion, Medical Genetics 0 1 0 1 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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