Submissions for variant NM_004006.3(DMD):c.2988A>G (p.Leu996=)

gnomAD frequency: 0.00007  dbSNP: rs148835707

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000318425	SCV000338010	uncertain significance	not provided	2016-06-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081510	SCV000560856	likely benign	Duchenne muscular dystrophy	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436107	SCV002751439	likely benign	Cardiovascular phenotype	2020-09-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Revvity Omics, Revvity	RCV000318425	SCV003829474	uncertain significance	not provided	2019-12-02	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000318425	SCV004562609	likely benign	not provided	2023-09-25	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001828210	SCV002089006	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2017-11-17	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535344	SCV004748728	likely benign	DMD-related disorder	2019-06-10	no assertion criteria provided	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).