ClinVar Miner

Variants studied for PGM1-congenital disorder of glycosylation

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 not provided total
32 7 138 139 22 1 315

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PGM1 25 7 113 118 21 1 262
LOC129930668, PGM1 7 0 21 18 1 0 46
LOC129930669, PGM1 0 0 3 3 0 0 6
AK4, ALG6, ANGPTL3, ATG4C, C1orf141, CACHD1, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, FOXD3, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, MIER1, MIR101-1, NFIA, PATJ, PDE4B, PGM1, RAVER2, ROR1, SGIP1, SLC35D1, TM2D1, UBE2U, USP1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 22 2 105 129 18 0 276
Illumina Laboratory Services, Illumina 0 0 36 10 7 0 53
OMIM 13 0 0 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 6 0 6
Revvity Omics, Revvity 1 2 2 0 0 0 5
Genome-Nilou Lab 0 0 0 0 4 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Morava/Kozicz Lab, Department of Clinical Genomics, Mayo Clinic 2 0 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 2
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 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

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