Submissions for variant NM_000117.3(EMD):c.12C>T (p.Tyr4=)

gnomAD frequency: 0.00007  dbSNP: rs782011714

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726522	SCV000345217	uncertain significance	not provided	2016-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000726522	SCV000532345	likely benign	not provided	2020-01-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085328	SCV000636280	likely benign	X-linked Emery-Dreifuss muscular dystrophy	2024-01-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379153	SCV002692464	likely benign	Cardiovascular phenotype	2020-10-02	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150155	SCV003838481	likely benign	Cardiomyopathy	2021-06-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003949950	SCV004774095	likely benign	EMD-related disorder	2019-07-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV001833411	SCV002084669	likely benign	Emery-Dreifuss muscular dystrophy	2020-02-06	no assertion criteria provided	clinical testing