ClinVar Miner

Variants studied for PMM2-congenital disorder of glycosylation

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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 not provided total
136 169 216 244 27 13 679

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PMM2 133 169 208 244 27 13 668
ABAT, PMM2, TMEM186 0 0 8 0 0 0 8
ABAT, LOC130058390, LOC130058391, LOC130058392, LOC130058393, PMM2, TMEM186 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: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 122 61 107 234 10 0 534
Illumina Laboratory Services, Illumina 6 0 75 8 12 0 101
Baylor Genetics 47 47 3 0 0 0 97
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 35 21 0 0 0 0 56
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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 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
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

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