ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5656-9C>T

gnomAD frequency: 0.00021  dbSNP: rs781212482
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606583 SCV000721379 likely benign not specified 2018-02-12 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.
Color Diagnostics, LLC DBA Color Health RCV001186257 SCV001352631 likely benign Cardiomyopathy 2018-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001426462 SCV001629115 likely benign Hypertrophic cardiomyopathy 2023-11-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811100 SCV002049030 likely benign not provided 2021-05-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476357 SCV002799503 likely benign Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-07-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001186257 SCV004829576 likely benign Cardiomyopathy 2023-11-30 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.