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
22 12 80 53 8 157

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 22 11 78 53 8 154
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
ALG3, LOC129938049 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 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
3billion 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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