ClinVar Miner

Variants in gene ALG12

See also:
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 25 256 257 52 563

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
ALG12-congenital disorder of glycosylation 29 20 215 236 32 495
not provided 2 8 22 13 33 76
Inborn genetic diseases 1 0 54 9 0 64
ALG12-related disorder 1 2 3 13 1 20
not specified 0 0 4 2 11 17
Congenital disorder of glycosylation 0 0 3 1 0 4

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 21 7 174 231 28 461
Illumina Laboratory Services, Illumina 0 0 54 7 10 71
Ambry Genetics 1 0 54 9 0 64
GeneDx 2 6 7 2 28 45
Breakthrough Genomics, Breakthrough Genomics 0 0 7 6 22 35
PreventionGenetics, part of Exact Sciences 1 2 3 13 9 28
Eurofins Ntd Llc (ga) 0 0 6 0 8 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 4 3 2 0 10
OMIM 9 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 6 3 0 0 9
CeGaT Center for Human Genetics Tuebingen 0 0 2 5 1 8
Revvity Omics, Revvity 0 2 3 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 1 1 4
3billion 1 1 2 0 0 4
Baylor Genetics 2 0 1 0 0 3
Daryl Scott Lab, Baylor College of Medicine 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.