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
39 57 111 67 21 4 253

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glycogen storage disease, type V 34 46 73 8 12 2 153
not provided 10 11 53 4 5 2 83
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
Glycogen storage disease 1 0 0 0 0 0 1
Severe Myopia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 9 9 20 53 6 0 97
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
Invitae 7 2 12 3 7 0 31
OMIM 21 0 0 0 0 0 21
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
Fulgent Genetics 3 1 4 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 4 0 0 0 6
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 3 3
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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 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
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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