ClinVar Miner

Variants studied for Congenital disorder of glycosylation, type Ia

Coded as:
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
64 64 116 26 19 242

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 63 64 112 26 19 237
ABAT, PMM2, TMEM186 1 0 4 0 0 5

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 6 0 75 8 12 101
Invitae 39 11 19 17 6 92
Counsyl 4 43 23 1 0 71
Integrated Genetics/Laboratory Corporation of America 24 6 0 0 0 30
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
Pediatric Metabolic Diseases,Hacettepe University 4 3 0 0 0 7
Myriad Women's Health, Inc. 6 1 0 0 0 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 1

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