ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4864C>T (p.Arg1622Cys)

gnomAD frequency: 0.00001  dbSNP: rs1331282016
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586167 SCV001811309 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Observed in 1/17202 (0.0058%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27535533)

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.