ClinVar Miner

Variants in gene PYGM

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
175 180 390 707 57 17 1314

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glycogen storage disease, type V 173 158 345 672 47 15 1239
not provided 21 20 95 49 26 2 196
not specified 0 0 17 52 17 0 82
Inborn genetic diseases 2 0 33 1 0 0 36
PYGM-related condition 2 1 3 17 1 0 24
Tip-toe gait 2 17 0 0 0 0 19
See cases 2 1 0 0 0 0 3
Elevated circulating creatine kinase concentration 0 0 2 0 0 0 2
McArdle disease, mild 2 0 0 0 0 0 2
Abnormality of metabolism/homeostasis 0 1 0 0 0 0 1
High myopia 0 0 1 0 0 0 1
Muscular atrophy 1 0 0 0 0 0 1
Myopathy 0 0 1 0 0 0 1
Rhabdomyolysis 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 150 48 184 662 32 0 1076
GeneDx 13 15 48 72 30 0 178
Revvity Omics, Revvity 18 10 118 0 0 0 146
Natera, Inc. 17 13 77 16 16 0 139
Baylor Genetics 36 66 5 0 0 0 107
Illumina Laboratory Services, Illumina 4 2 66 6 9 0 87
Counsyl 7 40 23 1 0 0 71
Eurofins Ntd Llc (ga) 9 0 30 5 9 0 53
PreventionGenetics, part of Exact Sciences 2 1 3 24 14 0 44
CeGaT Center for Human Genetics Tuebingen 6 2 15 18 1 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 11 15 3 0 0 38
Ambry Genetics 2 0 33 1 0 0 36
Mayo Clinic Laboratories, Mayo Clinic 2 2 19 4 5 0 32
Fulgent Genetics, Fulgent Genetics 8 4 14 2 0 0 28
Genome-Nilou Lab 0 0 16 3 9 0 28
OMIM 21 0 0 0 0 0 21
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 2 17 0 0 0 0 19
GeneReviews 0 0 0 0 0 13 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 6 0 10
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 1 0 0 0 4
MGZ Medical Genetics Center 2 0 1 0 0 0 3
Mendelics 1 1 0 0 1 0 3
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 2 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 1 0 0 0 3
DASA 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 0 1 0 0 1
Gene Friend Way, National Innovation Center 0 1 0 0 0 0 1

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