ClinVar Miner

Variants studied for PMM2-congenital disorder of glycosylation

Coded as:
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 not provided total
144 179 216 244 27 13 693

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PMM2 140 178 208 244 27 13 680
ABAT, PMM2, TMEM186 0 0 8 0 0 0 8
ABAT, LOC130058390, LOC130058391, LOC130058392, LOC130058393, PMM2, TMEM186 1 0 0 0 0 0 1
DPH1 0 1 0 0 0 0 1
KCNJ16 1 0 0 0 0 0 1
LOC130058391, PMM2 1 0 0 0 0 0 1
LOC130058392, LOC130058393, PMM2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 129 62 107 234 10 0 542
Baylor Genetics 47 60 2 0 0 0 109
Illumina Laboratory Services, Illumina 6 0 75 8 12 0 101
Natera, Inc. 27 8 20 5 10 0 70
Counsyl 4 38 22 1 0 0 65
Fulgent Genetics, Fulgent Genetics 17 14 20 11 1 0 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 36 24 0 0 0 0 60
Myriad Genetics, Inc. 8 14 1 0 0 0 23
OMIM 22 0 0 0 0 0 22
3billion 7 6 0 0 0 0 13
Revvity Omics, Revvity 6 1 5 0 0 0 12
GeneReviews 0 0 0 0 0 12 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 0 0 0 3 0 7
Pediatric Metabolic Diseases, Hacettepe University 4 3 0 0 0 0 7
Genome-Nilou Lab 1 0 0 0 6 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 4 0 0 1 1 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 5 1 0 0 0 0 6
Morava/Kozicz Lab, Department of Clinical Genomics, Mayo Clinic 1 2 2 0 0 0 5
Mendelics 4 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Study of Mitochondrial Disorders, Charles University, First Faculty of Medicine - General University Hospital in Prague 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Lab Thiel (Congenital Disorders of Glycosylation), Center for Child and Adolescent Medicine 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 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.