ClinVar Miner

Variants studied for Miyoshi muscular dystrophy 1

Included ClinVar conditions (2):
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
23 46 15 2 1 1 86

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DYSF 23 46 15 2 1 1 86

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Women's Health, Inc. 0 39 0 0 0 0 39
Baylor Genetics 4 0 7 0 0 0 11
Fulgent Genetics,Fulgent Genetics 5 3 3 0 0 0 11
OMIM 10 0 0 0 0 0 10
Nilou-Genome Lab 0 0 2 2 0 0 4
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 2 0 0 0 0 0 2
Pars Genome Lab 0 0 2 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 1
Tan Tock Seng Hospital,National Healthcare Group 1 0 0 0 0 0 1
Department of Neurology, Guangzhou First People’s Hospital,School of Medicine, South China University of Technology 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.