Submissions for variant NM_000117.3(EMD):c.525C>T (p.Ser175=)

gnomAD frequency: 0.00005  dbSNP: rs782367505

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725575	SCV000337896	uncertain significance	not provided	2015-12-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000725575	SCV000520950	likely benign	not provided	2019-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082980	SCV000759714	likely benign	X-linked Emery-Dreifuss muscular dystrophy	2023-12-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002338845	SCV002641214	likely benign	Cardiovascular phenotype	2020-10-13	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	RCV001795484	SCV002034613	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725575	SCV002038452	likely benign	not provided		no assertion criteria provided	clinical testing