Submissions for variant NM_004006.3(DMD):c.4115C>T (p.Ala1372Val)

dbSNP: rs759108067

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000872969	SCV000746406	benign	Duchenne muscular dystrophy	2020-05-03	criteria provided, single submitter	clinical testing
Invitae	RCV000872969	SCV001014881	benign	Duchenne muscular dystrophy	2024-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003302964	SCV004001806	benign	Cardiovascular phenotype	2023-04-06	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.
PreventionGenetics, part of Exact Sciences	RCV004544816	SCV004757416	likely benign	DMD-related disorder	2020-03-19	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).