ClinVar Miner

Variants studied for PMM2-CDG

Included ClinVar conditions (1):
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
49 58 32 2 3 116

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PMM2 48 58 32 2 3 115
ABAT, PMM2, TMEM186 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 10 44 23 1 0 78
Invitae 25 10 6 0 1 42
OMIM 22 0 0 0 0 22
Integrated Genetics/Laboratory Corporation of America 17 4 0 0 0 21
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
Illumina Clinical Services Laboratory,Illumina 6 0 1 0 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 4 0 0 0 3 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 4 0 0 1 1 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 1 0 0 4
Mendelics 3 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 3
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
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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 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

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