ClinVar Miner

Variants in gene PMM2

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 drug response total
86 83 143 83 22 1 343

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Congenital disorder of glycosylation, type Ia 81 76 128 60 19 0 304
not provided 25 9 20 10 2 0 62
not specified 0 0 1 22 6 0 27
Congenital disorder of glycosylation 1 0 4 1 0 0 6
Inborn genetic diseases 5 1 0 0 0 0 6
Cerebellar ataxia 0 2 0 0 0 0 2
Congenital cerebellar hypoplasia 0 2 0 0 0 0 2
Congenital cerebellar hypoplasia; Cerebellar ataxia; Cerebral palsy; Cerebral atrophy; Spasticity; Poor speech 2 0 0 0 0 0 2
Congenital cerebellar hypoplasia; Cerebellar ataxia; Muscular dystrophy; Diabetes mellitus 0 2 0 0 0 0 2
Intellectual disability 2 0 0 0 0 0 2
Corticosteroid response 0 0 0 0 0 1 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 1
Premature ovarian failure 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Invitae 61 21 31 56 6 0 175
Illumina Clinical Services Laboratory,Illumina 6 0 79 9 12 0 106
Counsyl 4 43 23 1 0 0 71
Integrated Genetics/Laboratory Corporation of America 25 9 2 1 3 0 40
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 15 3 17 2 3 0 40
GeneDx 12 4 0 18 4 0 38
Natera, Inc. 13 2 5 2 3 0 25
OMIM 22 0 0 0 0 0 22
GeneReviews 12 0 0 0 0 0 12
Baylor Genetics 7 1 2 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 8 1 1 0 0 0 10
Fulgent Genetics,Fulgent Genetics 6 1 2 0 0 0 9
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
Myriad Women's Health, Inc. 6 1 0 0 0 0 7
Ambry Genetics 5 1 0 0 0 0 6
PreventionGenetics, PreventionGenetics 0 0 0 2 4 0 6
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 4 1 1 0 0 0 6
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
Mendelics 3 0 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 2 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 1 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 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
Department of Pathology and Laboratory Medicine,Sinai Health System 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,VU University Medical Center Amsterdam 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Lineagen, Inc 0 0 1 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
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 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
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Human Developmental Genetics,Institut Pasteur 0 0 1 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1

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