Submissions for variant NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)

gnomAD frequency: 0.00180  dbSNP: rs141392048

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000217993	SCV000112757	likely benign	not specified	2014-10-02	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217993	SCV000270135	likely benign	not specified	2015-03-21	criteria provided, single submitter	clinical testing	p.Phe3228Leu in exon 67 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (49/8265) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs141392048).
Ambry Genetics	RCV000250763	SCV000320230	benign	Cardiovascular phenotype	2017-09-15	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990576	SCV000560820	benign	Duchenne muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000217993	SCV000721717	benign	not specified	2017-07-21	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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000853036	SCV000995793	benign	Cardiomyopathy	2019-04-17	criteria provided, single submitter	clinical testing
Mendelics	RCV000990576	SCV001141590	benign	Duchenne muscular dystrophy	2019-05-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490704	SCV002795558	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B	2021-12-02	criteria provided, single submitter	clinical testing
CSER _CC_NCGL, University of Washington	RCV000148462	SCV000190161	likely benign	Primary dilated cardiomyopathy	2014-06-01	no assertion criteria provided	research
Natera, Inc.	RCV001826768	SCV002077648	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2018-03-27	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004529847	SCV004750677	benign	DMD-related disorder	2024-01-04	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).