ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.4648+7A>G (rs555598943)

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 RCV000220915 SCV000270568 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing c.4648+7A>G in intron 34 of MYOM1: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. I t has been identified in 7/10040 Latino chromosomes by the Exome Aggregation Con sortium (ExAC,; dbSNP rs555598943).

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.