Submissions for variant NM_000117.3(EMD):c.276C>T (p.Asp92=)

gnomAD frequency: 0.00002  dbSNP: rs782680849

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780222	SCV000917315	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000862711	SCV001003253	likely benign	X-linked Emery-Dreifuss muscular dystrophy	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003344039	SCV004068084	likely benign	Cardiovascular phenotype	2023-08-11	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	RCV000780222	SCV001925158	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702560	SCV001930042	likely benign	not provided		no assertion criteria provided	clinical testing