ClinVar Miner

Variants studied for TPM2-related myopathy

Included ClinVar conditions (10):
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
92 29 300 145 77 3 620

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR1 76 27 286 141 63 3 570
TPM2 8 2 14 4 8 0 36
​intergenic 8 0 0 0 0 0 8
ANTXR2 0 0 0 0 1 0 1
ATP13A4 0 0 0 0 1 0 1
CLN8 0 0 0 0 1 0 1
CRX 0 0 0 0 1 0 1
MEFV 0 0 0 0 1 0 1
PPT1 0 0 0 0 1 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
Illumina Clinical Services Laboratory,Illumina 0 1 248 144 68 0 445
GeneReviews 63 0 0 0 4 0 67
Baylor Genetics 3 1 25 0 0 0 29
Fulgent Genetics,Fulgent Genetics 5 1 17 0 0 0 23
OMIM 20 0 0 0 0 0 20
Broad Institute Rare Disease Group, Broad Institute 0 4 3 0 6 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 5
Center for Genetic Medicine Research,Children's National Medical Center 0 5 0 0 0 0 5
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 1 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 1 0 0 0 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 1
Pediatric Department, Peking University First Hospital 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1

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