ClinVar Miner

Variants in gene ALG3

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 20 110 79 13 215

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
ALG3-congenital disorder of glycosylation 27 14 77 57 8 165
not provided 4 6 22 19 6 55
Inborn genetic diseases 1 0 28 0 0 29
not specified 0 0 9 11 5 24
ALG3-related disorder 0 0 1 10 1 12
Congenital disorder of glycosylation 0 1 1 0 0 2
Intellectual disability 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 3 41 57 7 114
GeneDx 2 5 15 20 7 49
Illumina Laboratory Services, Illumina 0 0 33 3 2 38
Ambry Genetics 1 0 28 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 9 0 0 15
PreventionGenetics, part of Exact Sciences 0 0 1 10 3 14
University of Washington Center for Mendelian Genomics, University of Washington 10 4 0 0 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 0 9 4 13
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 6 0 0 6
CeGaT Center for Human Genetics Tuebingen 0 0 1 4 1 6
OMIM 5 0 0 0 0 5
Baylor Genetics 0 0 4 0 0 4
Eurofins Ntd Llc (ga) 0 1 1 1 1 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 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
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
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
3billion 0 1 0 0 0 1

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