ClinVar Miner

Variants in gene LMOD1

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
3 0 44 10 4 60

Condition and significance breakdown #

Total conditions: 5
Download table as spreadsheet
Condition pathogenic uncertain significance likely benign benign total
not specified 0 39 1 1 41
not provided 0 4 8 4 15
Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 3 2 0 0 5
LMOD1-related condition 0 0 1 0 1
Visceral myopathy 1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 39 1 0 40
Labcorp Genetics (formerly Invitae), Labcorp 0 0 7 3 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 0 1 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 2
Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 2
OMIM 1 0 0 0 1
GeneDx 0 0 0 1 1
PreventionGenetics, part of Exact Sciences 0 0 1 0 1
Clinical Genetics, Erasmus University Medical Center 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 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.