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 total
54 67 101 57 12 238

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital disorder of glycosylation, type Ia 48 58 32 2 3 115
not provided 23 8 20 27 7 77
Congenital disorder of glycosylation 1 0 54 11 1 67
not specified 0 0 2 21 6 27
Inborn genetic diseases 5 1 0 0 0 6
Cerebellar ataxia 0 2 0 0 0 2
Congenital cerebellar hypoplasia; Cerebellar ataxia; Cerebral palsy; Cerebral atrophy; Spasticity; Poor speech 2 0 0 0 0 2
Congenital cerebellar hypoplasia; Cerebellar ataxia; Muscular dystrophy; Diabetes mellitus 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 10 44 23 1 0 78
Illumina Clinical Services Laboratory,Illumina 6 0 55 11 1 73
Invitae 24 10 6 26 6 72
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 15 3 17 2 3 40
GeneDx 12 4 0 18 4 38
Integrated Genetics/Laboratory Corporation of America 17 4 3 0 3 27
OMIM 22 0 0 0 0 22
GeneReviews 12 0 0 0 0 12
Fulgent Genetics,Fulgent Genetics 6 1 2 0 0 9
Baylor Genetics 6 1 0 0 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 4 0 0 0 3 7
Ambry Genetics 5 1 0 0 0 6
PreventionGenetics,PreventionGenetics 0 0 0 2 4 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 4 0 0 1 1 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 4 1 1 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 1 0 0 4
Mendelics 3 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 2 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 3
Genetic Services Laboratory, University of Chicago 1 0 0 1 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 1 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 1 1 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 2 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
Lineagen, Inc 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Lab Thiel (Congenital Disorders of Glycosylation),Center for Child and Adolescent Medicine 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1

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