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
50 63 98 33 8 214

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Carbohydrate-deficient glycoprotein syndrome type I 44 56 30 2 4 112
Congenital disorder of glycosylation 0 0 54 11 1 66
not provided 23 8 19 1 2 50
not specified 0 0 2 21 6 27
Inborn genetic diseases 5 1 0 0 0 6

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 8 46 22 1 0 77
Illumina Clinical Services Laboratory,Illumina 6 0 55 11 1 73
Invitae 24 10 7 0 2 43
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 4 0 0 0 3 7
Ambry Genetics 5 1 0 0 0 6
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
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
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 Genetics 1 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 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

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