ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2041G>C (p.Gly681Arg)

gnomAD frequency: 0.02765  dbSNP: rs75915336
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037030 SCV000060686 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Gly681Arg in Exon 17 of MYH14: This variant is not expected to have clinical sig nificance because it has been identified in 9.5% (67/702) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs75915336).
GeneDx RCV001610323 SCV001833750 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000037030 SCV001880142 benign not specified 2021-02-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001610323 SCV004564720 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610323 SCV005309310 benign not provided criteria provided, single submitter not provided

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.