ClinVar Miner

Variants studied for Myosin storage myopathy

Coded as:
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 total
14 13 121 27 18 191

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYH7 12 9 90 23 13 145
LOC126861897, MHRT, MYH7 1 3 13 0 3 20
MHRT, MYH7 0 0 10 0 1 11
LOC126861898, MYH7 1 1 4 2 0 8
LOC126861897, MYH7 0 0 3 0 0 3
LOC114827851, MYH6, MYH7 0 0 0 1 0 1
LOC114827851, MYH7 0 0 0 1 0 1
MIR208B, MYH7 0 0 1 0 0 1
MYH6, MYH7 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 96 27 17 140
Baylor Genetics 7 2 6 0 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 5 0 0 7
OMIM 4 0 0 0 0 4
MGZ Medical Genetics Center 0 2 2 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 1 0 0 4
Phosphorus, Inc. 0 0 3 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 1
Solve-RD Consortium 0 1 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.