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
23 14 81 54 8 161

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 23 13 78 53 8 157
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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 3 44 51 7 108
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
Lab Thiel (Congenital Disorders of Glycosylation), Center for Child and Adolescent Medicine 4 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
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 0 1 0 1 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
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

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