ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4651-12A>C

gnomAD frequency: 0.00413  dbSNP: rs193922653
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 RCV000037512 SCV000061170 benign not specified 2015-06-25 criteria provided, single submitter clinical testing c.4651-12A>C in intron 32 of MYH6: This variant is not expected to have clinical significance because it has been identified in 1.4% (139/10018) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g/, dbSNP rs193922653).
GeneDx RCV000037512 SCV000515344 benign not specified 2017-01-12 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852691 SCV000995401 benign Primary dilated cardiomyopathy 2019-05-08 criteria provided, single submitter clinical testing
Invitae RCV002054508 SCV002407130 benign Hypertrophic cardiomyopathy 14 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030308 SCV000052975 benign Cardiomyopathy 2015-05-26 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037512 SCV001919079 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701484 SCV001929555 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037512 SCV001958478 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037512 SCV001969090 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.