ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1665C>T (p.Pro555=)

gnomAD frequency: 0.00004  dbSNP: rs202104229
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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 RCV000615724 SCV000731503 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing p.Pro555Pro in exon 15 of MYH14: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 4/56792 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs202104229).
Invitae RCV003718267 SCV004510035 likely benign not provided 2023-09-14 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.