ClinVar Miner

Variants in gene PGM1

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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 not provided total
27 18 163 177 63 1 404

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PGM1-congenital disorder of glycosylation 26 10 116 135 21 1 284
not provided 4 6 35 46 57 0 133
Inborn genetic diseases 1 1 43 0 0 0 45
not specified 0 0 7 19 17 0 42
Congenital disorder of glycosylation 0 1 20 13 2 0 36
PGM1-related disorder 2 1 1 17 2 0 23

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 18 2 85 127 17 0 249
GeneDx 2 3 18 39 55 0 117
Illumina Laboratory Services, Illumina 0 0 32 14 7 0 49
Ambry Genetics 1 1 43 0 0 0 45
Breakthrough Genomics, Breakthrough Genomics 0 0 3 21 19 0 43
PreventionGenetics, part of Exact Sciences 2 1 1 17 2 0 23
Mayo Clinic Laboratories, Mayo Clinic 0 2 8 0 13 0 23
CeGaT Center for Human Genetics Tuebingen 1 0 5 7 1 0 14
OMIM 9 0 0 0 0 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 9 0 9
Genetic Services Laboratory, University of Chicago 0 0 5 2 1 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 6 0 6
Eurofins Ntd Llc (ga) 1 0 5 0 0 0 6
Revvity Omics, Revvity 1 2 2 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 1 2 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 1 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Morava/Kozicz Lab, Department of Clinical Genomics, Mayo Clinic 2 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 1

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