Submissions for variant NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn)

gnomAD frequency: 0.00063  dbSNP: rs138399787

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704879	SCV000235855	benign	not provided	2020-03-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000225715	SCV000334580	likely benign	not specified	2017-11-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473094	SCV000560839	benign	Duchenne muscular dystrophy	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426883	SCV002681948	benign	Cardiovascular phenotype	2019-01-25	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.
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire	RCV000201326	SCV000239946	benign	Abnormality of neuronal migration	2014-10-31	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001833102	SCV002087689	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2020-10-08	no assertion criteria provided	clinical testing