ClinVar Miner

Variants studied for Inclusion body myopathy 3

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
15 10 110 24 27 183

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYH2, MYHAS 15 10 109 24 27 182
MYH1, MYH2, MYHAS 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 4 108 24 23 164
OMIM 9 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
IRCCS Fondazione Stella Maris,University of Pisa 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.