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
79 77 188 201 44 4 509

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glycogen storage disease, type V 71 69 161 154 27 2 424
not provided 17 13 56 31 18 2 129
not specified 0 0 3 58 17 0 75
Elevated serum creatine phosphokinase 0 0 2 0 0 0 2
Inborn genetic diseases 2 0 0 0 0 0 2
McArdle disease, mild 2 0 0 0 0 0 2
Myopathy 0 0 1 0 0 0 1
Severe Myopia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 52 21 39 154 18 0 284
GeneDx 10 9 20 59 19 0 117
Natera, Inc. 9 4 54 8 13 0 88
Illumina Clinical Services Laboratory,Illumina 4 2 66 6 9 0 87
Counsyl 7 40 23 1 0 0 71
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 9 0 30 5 9 0 53
OMIM 21 0 0 0 0 0 21
PreventionGenetics, PreventionGenetics 0 0 0 7 13 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 5 3 7 3 0 0 18
Mayo Clinic Laboratories, Mayo Clinic 1 0 5 4 5 0 15
GeneReviews 8 0 0 0 5 0 13
Fulgent Genetics,Fulgent Genetics 3 1 4 0 0 0 8
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Mendelics 1 1 0 0 1 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 0 0 0 0 0 2
Ambry Genetics 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 0 2
Clinical Genetics Karolinska University Hospital,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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 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
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
Columbia University Medical Center,Columbia University 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 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
Pars Genome Lab 0 0 0 1 0 0 1

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