ClinVar Miner

Submissions for variant NM_033118.3(MYLK2):c.284C>A (p.Ala95Glu) (rs121908108)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154782 SCV000229245 likely benign not specified 2015-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000154782 SCV000236026 likely benign not specified 2017-02-01 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 RCV000467194 SCV000556767 benign Familial hypertrophic cardiomyopathy 1 2017-09-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154782 SCV000204462 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing p.Ala95Glu in exon 3 of MYLK2: This variant is not expected to have clinical sig nificance because it has been identified in 0.8% (75/9276) of African chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs121908108).
OMIM RCV000004466 SCV000024639 pathogenic Cardiomyopathy, hypertrophic, midventricular, digenic 2001-11-30 no assertion criteria provided literature only

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.