ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1066C>T (p.Leu356Phe)

gnomAD frequency: 0.00006  dbSNP: rs199981454
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473119 SCV000550317 likely benign Duchenne muscular dystrophy 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411484 SCV002722417 likely benign Cardiovascular phenotype 2020-02-03 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Revvity Omics, Revvity RCV003144269 SCV003830036 uncertain significance not provided 2020-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833589 SCV002090417 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-05-07 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.