ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.400-9C>T

gnomAD frequency: 0.00007  dbSNP: rs782061626
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219256 SCV000270184 likely benign not specified 2015-02-26 criteria provided, single submitter clinical testing c.400-9C>T in intron 5 of EMD: This variant is not expected to have clinical sig nificance because a C>T change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. In addition, i t has been identified in 10/47376 European chromosomes including 3 hemizygous ma les by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
Eurofins Ntd Llc (ga) RCV000726976 SCV000704602 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000219256 SCV000728371 likely benign not specified 2017-11-30 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.
Invitae RCV000608494 SCV001006246 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608494 SCV000734764 likely benign X-linked Emery-Dreifuss muscular dystrophy no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000219256 SCV001923819 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000726976 SCV001928270 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000726976 SCV001955494 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001828062 SCV002084690 likely benign Emery-Dreifuss muscular dystrophy 2020-01-08 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.