ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1978C>G (p.Pro660Ala) (rs201104206)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233900 SCV000287989 likely benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000611061 SCV000711649 likely benign not specified 2016-05-12 criteria provided, single submitter clinical testing p.Pro600Ala in exon14 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (21/6612) of Finnish chromosom es by the Exome Aggregation Consortium (ExAC,; db SNP rs201104206).
Blueprint Genetics RCV000143932 SCV000188810 uncertain significance Primary dilated cardiomyopathy 2013-09-27 no assertion criteria provided clinical testing
Blueprint Genetics RCV000157378 SCV000207116 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-03-14 no assertion criteria provided clinical testing

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.