ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5475G>A (p.Glu1825=)

gnomAD frequency: 0.00344  dbSNP: rs79143968
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
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 RCV000037533 SCV000061191 benign not specified 2011-11-30 criteria provided, single submitter clinical testing
Invitae RCV000226990 SCV000287437 benign Hypertrophic cardiomyopathy 14 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250388 SCV000318464 benign Cardiovascular phenotype 2016-05-20 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000037533 SCV000513792 benign not specified 2016-11-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770425 SCV000901868 benign Cardiomyopathy 2015-10-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811262 SCV001473582 benign not provided 2020-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482990 SCV002795400 benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-07-20 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037533 SCV001917666 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037533 SCV001959264 benign not specified no assertion criteria provided 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.