ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4353+10G>A

gnomAD frequency: 0.00274  dbSNP: rs202205780
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
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 RCV000035904 SCV000059555 benign not specified 2012-03-02 criteria provided, single submitter clinical testing 4353+10G>A in intron 31 of MYH7: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (27/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS).
Eurofins NTD LLC (GA) RCV000035904 SCV000229297 benign not specified 2015-01-23 criteria provided, single submitter clinical testing
Invitae RCV001086618 SCV000252662 benign Hypertrophic cardiomyopathy 2021-12-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035904 SCV000303235 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712358 SCV000842832 likely benign not provided 2018-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000712358 SCV001848902 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000712358 SCV001739795 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000035904 SCV001925564 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000035904 SCV001928783 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000712358 SCV001956795 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000035904 SCV001968997 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000712358 SCV002035857 likely benign not provided 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.