ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3771T>C (p.Asn1257=)

gnomAD frequency: 0.00004  dbSNP: rs375219617
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, Mass General Brigham Personalized Medicine RCV000035866 SCV000059517 likely benign not specified 2011-04-28 criteria provided, single submitter clinical testing
Invitae RCV000928877 SCV001074498 likely benign Hypertrophic cardiomyopathy 2023-11-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180867 SCV001345908 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345277 SCV002620399 likely benign Cardiovascular phenotype 2021-12-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.