ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3942C>T (p.Asp1314=)

dbSNP: rs921429381
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
Color Diagnostics, LLC DBA Color Health RCV001187386 SCV001354169 likely benign Cardiomyopathy 2018-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001444342 SCV001647339 likely benign Hypertrophic cardiomyopathy 2023-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000869352 SCV001880965 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352562 SCV002621829 likely benign Cardiovascular phenotype 2019-01-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002495287 SCV002795887 likely benign Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2022-05-20 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.