Submissions for variant NM_004006.3(DMD):c.8076A>G (p.Gln2692=)

gnomAD frequency: 0.00025  dbSNP: rs144518527

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724640	SCV000231369	uncertain significance	not provided	2018-07-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000724640	SCV000728548	benign	not provided	2020-05-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619660	SCV000736666	likely benign	Cardiovascular phenotype	2016-08-30	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085311	SCV001016011	likely benign	Duchenne muscular dystrophy	2024-01-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330538	SCV004038113	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001833088	SCV002087711	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2019-06-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537481	SCV004741114	likely benign	DMD-related disorder	2019-09-13	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).