ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) (rs61737803)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758037 SCV000564479 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.4452C>T (p.Leu1484=) variant in the MYH7 gene is 0.74% (92/10406) of African chromosomes by the Exome Aggregation Consortium (, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035913 SCV000059564 benign not specified 2012-03-02 criteria provided, single submitter clinical testing Leu1484Leu in exon 32 of MYH7: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (27/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /; dbSNP rs61737803).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035913 SCV000229388 benign not specified 2015-01-23 criteria provided, single submitter clinical testing
Invitae RCV001082545 SCV000252663 benign Hypertrophic cardiomyopathy 2020-12-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035913 SCV000303238 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712359 SCV000842833 likely benign not provided 2018-01-26 criteria provided, single submitter clinical testing
Color Health, Inc RCV000758037 SCV000913770 benign Cardiomyopathy 2018-10-16 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.