Submissions for variant NM_000117.3(EMD):c.108G>A (p.Lys36=)

gnomAD frequency: 0.00005  dbSNP: rs1057521050

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000437417	SCV000520787	likely benign	not provided	2018-10-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003522967	SCV004284485	likely benign	X-linked Emery-Dreifuss muscular dystrophy	2024-08-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004022343	SCV004863516	likely benign	Cardiovascular phenotype	2021-08-19	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.
Clinical Genetics, Academic Medical Center	RCV001700370	SCV001925743	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000437417	SCV001954072	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000437417	SCV001974116	likely benign	not provided		no assertion criteria provided	clinical testing