ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.984G>A (p.Ser328=) (rs115018449)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757530 SCV000885790 benign not provided 2017-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618534 SCV000739271 benign Cardiovascular phenotype 2016-03-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173910 SCV000225086 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000173910 SCV000719207 benign not specified 2017-08-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000473354 SCV000560690 benign Aortic aneurysm, familial thoracic 7 2017-05-22 criteria provided, single submitter 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.