ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.537G>A (p.Leu179=)

gnomAD frequency: 0.00014  dbSNP: rs368661339
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
Athena Diagnostics RCV000516427 SCV000613255 likely benign not specified 2017-03-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726975 SCV000704601 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000726975 SCV000972837 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing
Invitae RCV001081000 SCV001004361 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350136 SCV002643405 likely benign Cardiovascular phenotype 2021-03-20 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.
Natera, Inc. RCV001834665 SCV002084697 benign Emery-Dreifuss muscular dystrophy 2019-10-22 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.