Submissions for variant NM_004006.3(DMD):c.7571G>A (p.Arg2524His)

gnomAD frequency: 0.00109  dbSNP: rs151244052

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000252404	SCV000319950	benign	Cardiovascular phenotype	2018-03-15	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV001704073	SCV000515978	likely benign	not provided	2021-06-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24055113, 21515508, 25637381)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990616	SCV000560803	likely benign	Duchenne muscular dystrophy	2024-01-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000434520	SCV000603349	benign	not specified	2017-04-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000434520	SCV000705594	likely benign	not specified	2017-03-03	criteria provided, single submitter	clinical testing
Mendelics	RCV000990616	SCV001141632	benign	Duchenne muscular dystrophy	2019-05-28	criteria provided, single submitter	clinical testing
Genetics and Genomics Program, Sidra Medicine	RCV001293115	SCV001434105	likely benign	Primary dilated cardiomyopathy		criteria provided, single submitter	research
Fulgent Genetics, Fulgent Genetics	RCV002498678	SCV002807543	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B	2021-11-16	criteria provided, single submitter	clinical testing
CSER _CC_NCGL, University of Washington	RCV000148463	SCV000190162	likely benign	Muscular dystrophy	2014-06-01	no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001704073	SCV001978709	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001704073	SCV001980270	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826799	SCV002087750	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2018-03-21	no assertion criteria provided	clinical testing