Submissions for variant NM_004006.3(DMD):c.6614+7C>T

gnomAD frequency: 0.00003  dbSNP: rs180719577

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726571	SCV000345595	uncertain significance	not provided	2016-08-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000305282	SCV000535176	likely benign	not specified	2016-12-20	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.
Invitae	RCV001088071	SCV000560864	benign	Duchenne muscular dystrophy	2024-01-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537617	SCV004740642	likely benign	DMD-related disorder	2019-09-25	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000726571	SCV001743716	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000726571	SCV001931035	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001833414	SCV002087835	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2017-11-16	no assertion criteria provided	clinical testing