Submissions for variant NM_004006.3(DMD):c.6072T>C (p.Cys2024=)

gnomAD frequency: 0.00002  dbSNP: rs373804251

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV001256880	SCV001433376	benign	not specified	2019-09-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001407764	SCV001609743	likely benign	Duchenne muscular dystrophy	2024-05-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002357061	SCV002659871	likely benign	Cardiovascular phenotype	2022-04-09	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001256880	SCV004038114	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529076	SCV001741921	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529076	SCV001930609	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001830059	SCV002091044	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2018-11-06	no assertion criteria provided	clinical testing