ClinVar Miner

Variants studied for Laing early-onset distal myopathy

Included ClinVar conditions (5):
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
32 4 48 47 11 141

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYH7 12 4 43 39 7 105
MHRT, MYH7 20 0 5 6 3 33
LOC114827851, MYH6, MYH7 0 0 0 1 0 1
LOC114827851, MYH7 0 0 0 1 0 1
MYH6, MYH7 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 36 47 9 92
GeneReviews 25 0 0 0 3 28
Fulgent Genetics 7 2 8 0 0 17
Neurogenetics Laboratory,Royal Perth Hospital 15 0 0 0 0 15
OMIM 4 0 0 0 0 4
Phosphorus, Inc. 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 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.