Submissions for variant NM_000117.3(EMD):c.603C>T (p.Leu201=)

gnomAD frequency: 0.00001  dbSNP: rs1557182663

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002070346	SCV002454381	likely benign	X-linked Emery-Dreifuss muscular dystrophy	2023-06-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004616751	SCV005114679	likely benign	Cardiovascular phenotype	2024-04-23	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528539	SCV001740417	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528539	SCV001951202	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528539	SCV001970783	likely benign	not provided		no assertion criteria provided	clinical testing