ClinVar Miner

Variants studied for congenital myopathy with cores

Included ClinVar conditions (15):
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
144 56 620 220 129 4 1082

Gene and significance breakdown #

Total genes and gene combinations: 12
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR1 92 37 368 145 89 4 648
SELENON 43 16 114 34 20 0 223
CCDC78 1 1 137 41 14 0 194
​intergenic 8 0 0 0 0 0 8
TTN 1 2 0 0 0 0 3
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
FXR1 0 0 1 0 0 0 1
MEFV 0 0 0 0 1 0 1
PPT1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 41
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 2 313 144 86 0 468
Invitae 37 11 246 75 31 0 400
GeneReviews 62 0 0 0 4 0 66
Baylor Genetics 6 4 30 0 0 0 40
OMIM 36 0 0 0 0 0 36
Fulgent Genetics,Fulgent Genetics 5 1 20 0 0 0 26
Broad Institute Rare Disease Group, Broad Institute 0 4 4 0 6 0 14
Pediatric Department, Peking University First Hospital 3 5 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 5 0 0 0 6
CSER _CC_NCGL, University of Washington 0 0 5 1 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 4 1 0 0 0 0 5
Center for Genetic Medicine Research,Children's National Medical Center 0 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 0 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 2 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 1 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 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
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 1 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Belal Azab Laboratory,The University of Jordan 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.