ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.369G>A (p.Gln123=)

gnomAD frequency: 0.00001  dbSNP: rs768169477
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 RCV001187514 SCV001354332 likely benign Cardiomyopathy 2019-10-08 criteria provided, single submitter clinical testing
GeneDx RCV001586029 SCV001811172 likely benign not provided 2019-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068469 SCV002437738 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2022-07-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003293955 SCV003993360 likely benign Cardiovascular phenotype 2023-03-24 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.
All of Us Research Program, National Institutes of Health RCV004008706 SCV004844846 likely benign Hypertrophic cardiomyopathy 2023-08-15 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.