ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.2428C>T

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825987 SCV000967475 uncertain significance not specified 2018-03-14 criteria provided, single submitter clinical testing The p.Arg810Trp variant in MYOM1 has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/276752 chromosomes by the Gen ome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7767 27177). Computational prediction tools and conservation analysis suggest that th e p.Arg810Trp variant may impact the protein, though this information is not pre dictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg810Trp variant is uncertain. ACMG/AMP Criteria applied: PP3, PM2.

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.