ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.618C>T (p.Ile206=)

gnomAD frequency: 0.00002  dbSNP: rs782496874
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
Invitae RCV000863749 SCV001004459 benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001638001 SCV001849849 benign not provided 2020-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352515 SCV002655849 likely benign Cardiovascular phenotype 2019-02-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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. RCV001830870 SCV002084707 benign Emery-Dreifuss muscular dystrophy 2020-04-11 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.