ClinVar Miner

Variants studied for myositis disease

Included ClinVar conditions (9):
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 affects association not provided total
187 162 1057 765 62 1 4 12 2089

Gene and significance breakdown #

Total genes and gene combinations: 13
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
MYH2, MYHAS 43 18 562 313 33 0 0 0 934
GNE 125 129 355 379 18 1 0 12 901
LOC126862500, MYH2, MYHAS 12 9 89 49 6 0 0 0 160
LOC126862501, MYH2, MYHAS 5 4 35 23 5 0 0 0 69
MYH2 1 1 12 0 0 0 0 0 14
IL1B 0 0 0 0 0 0 3 0 3
GNE, LOC130001749 0 0 1 1 0 0 0 0 2
CAPN3, LOC126862115 0 0 1 0 0 0 0 0 1
FAM111B 0 1 0 0 0 0 0 0 1
GAS7, GLP2R, MYH1, MYH13, MYH2, MYH4, MYH8, RCVRN 1 0 0 0 0 0 0 0 1
LOC126862500, MYH1, MYH2, MYHAS 0 0 1 0 0 0 0 0 1
MUC5B 0 0 0 0 0 0 1 0 1
MYH2, MYH3, SCO1 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 157 45 849 739 43 0 0 0 1833
Illumina Laboratory Services, Illumina 3 1 117 22 31 0 0 0 174
Revvity Omics, Revvity 2 3 106 2 0 0 0 0 113
Natera, Inc. 17 5 59 4 4 0 0 0 89
Counsyl 5 44 35 0 0 0 0 0 84
Baylor Genetics 32 42 5 0 0 0 0 0 79
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 10 0 0 0 0 0 0 28
Fulgent Genetics, Fulgent Genetics 7 5 8 7 0 0 0 0 27
OMIM 22 0 0 0 0 0 0 0 22
Myriad Genetics, Inc. 5 15 0 0 0 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 3 2 6 0 0 0 0 0 11
GeneReviews 0 0 0 0 0 0 0 10 10
Genome-Nilou Lab 0 0 1 1 8 0 0 0 10
Mendelics 2 0 3 0 2 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 4 0 0 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 2 0 0 0 0 0 0 7
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 4 0 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 3 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 1 0 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 1 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 0 0 4
MGZ Medical Genetics Center 1 1 2 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 2 2 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 0 0 4
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 0 4 0 4
3billion 2 1 1 0 0 0 0 0 4
Sema4, Sema4 2 0 1 0 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 1 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 0 0 2
GenePathDx, GenePath diagnostics 2 0 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics, Emory University 1 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 0 1
Department of Pathophysiology and Transplantation, University of Milan 1 0 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 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.