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
42 63 119 131 39 4 333

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 12 11 55 86 31 2 180
Glycogen storage disease, type V 35 52 79 5 9 2 165
not specified 0 0 3 58 17 0 75
Inborn genetic diseases 2 0 0 0 0 0 2
McArdle disease, mild 2 0 0 0 0 0 2
Muscular Diseases 0 0 1 0 0 0 1
Severe Myopia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 5 17 77 17 0 125
GeneDx 9 9 20 59 19 0 116
Counsyl 7 40 23 1 0 0 71
Illumina Clinical Services Laboratory,Illumina 4 2 42 4 2 0 54
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 0 30 5 9 0 52
OMIM 21 0 0 0 0 0 21
PreventionGenetics,PreventionGenetics 0 0 0 7 13 0 20
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 5 4 5 0 15
GeneReviews 8 0 0 0 5 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 7 0 0 0 9
Fulgent Genetics,Fulgent Genetics 3 1 4 0 0 0 8
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
Mendelics 1 1 0 0 1 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 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
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
Division of Genomic Diagnostics,The 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
Institute of Human Genetics,University of Wuerzburg 0 0 1 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
Institute of Human Genetics,Polish Academy of Sciences 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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