ClinVar Miner

Variants studied for Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
16 3 36 12 2 66

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PGK1 16 3 36 12 2 66

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 0 0 7 8 0 15
OMIM 14 0 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 4 4 1 10
Revvity Omics, Revvity 0 0 8 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 4
Baylor Genetics 0 0 1 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 1 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 1

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