ClinVar Miner

Variants studied for PMM2-congenital disorder of glycosylation

Coded as:
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
148 195 238 255 28 13 740

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 145 195 230 255 28 13 729
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: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 133 65 110 244 11 0 563
Fulgent Genetics, Fulgent Genetics 27 41 56 12 1 0 137
Baylor Genetics 47 60 2 0 0 0 109
Illumina Laboratory Services, Illumina 6 0 74 8 12 0 100
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 44 26 0 0 0 0 70
Natera, Inc. 27 8 20 5 10 0 70
Counsyl 4 38 22 1 0 0 65
Myriad Genetics, Inc. 8 14 1 0 0 0 23
OMIM 22 0 0 0 0 0 22
3billion 8 5 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 9 2 0 0 0 0 11
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 2 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 3 1 1 0 0 0 5
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 1 3 0 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 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
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 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
Institute of Human Genetics, Heidelberg University 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
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Research Laboratories, P. D. Hinduja Hospital & MRC 2 0 0 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 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
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 0 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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 0 0 0 0 1
DiNA Science 0 1 0 0 0 0 1

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