ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) (rs189243324)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214982 SCV000270435 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing p.Asp648Asp in exon 16 of MYH14: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, and has been identi fied in 0.4% (14/3596) of African American chromosomes from a broad population b y the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000214982 SCV000707544 likely benign not specified 2017-04-04 criteria provided, single submitter clinical testing
Invitae RCV000973606 SCV001121373 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000973606 SCV001144623 benign not provided 2019-08-05 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.