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
37 53 26 2 4 101

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PMM2 37 53 26 2 4 101

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 8 46 22 1 0 77
OMIM 22 0 0 0 0 22
Integrated Genetics/Laboratory Corporation of America 17 4 0 0 0 21
Invitae 12 1 2 0 2 17
GeneReviews 12 0 0 0 0 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 2 0 0 0 11
Fulgent Genetics 6 1 2 0 0 9
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
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
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
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.