Submissions for variant NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)

dbSNP: rs371588290

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000606619	SCV000725982	likely benign	not specified	2018-01-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845460	SCV000987550	uncertain significance	Primary familial dilated cardiomyopathy		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001860317	SCV002231379	likely benign	Duchenne muscular dystrophy	2025-01-21	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003144392	SCV003829488	uncertain significance	not provided	2021-05-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005044901	SCV005682864	uncertain significance	Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B	2024-06-05	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001834944	SCV002087737	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2020-05-07	no assertion criteria provided	clinical testing